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Beta-thalassemia major is a severe hereditary anemia that necessitates regular blood transfusions, leading to iron overload. This condition also affects various biological markers, including ferritin and vitamin D levels, and can influence immune responses and oral health. The Aim of Study To examine the relationship between salivary Porphyromonas gingivalis IgA and IgG levels with the concentrations of ferritin and vitamin D in adolescent affected by Beta-Thalassemia Major. A case-control study was conducted from November 2023 to June 2024, involving 45 beta-thalassemia major adolescents and 45 healthy controls. All subjects were within ages ranged between 12-17 years. Saliva sample was collected and analyzed for estimation of salivary anti-Porphyromonas gingivalis IgA and IgG by using ELISA and blood collected and analyzed to measures s.ferritin and s.vitamin D by Cobas E411 system. The study group exhibited significantly lower mean salivary anti-Porphyromonas gingivalis IgA and IgG levels (40.59± 16.71 pg/ml), (15.23±3.21 pg/ml) compared to the control group (93.06± 55.25pg/ml), (18.92±3.32 pg/ml) (p=0.000) respectively. Serum ferritin (4158.37±542.64 ng/ml vs. 25.11±10.93 ng/ml), and vitamin D levels (9.83±4.69 ng/ml vs. 16.40±12.93 ng/ml) showed significant differences (p<0.05) between study and control groups. Beta-thalassemia major significantly impacts salivary and serum biochemical markers, highlighting the importance of regular monitoring and potential targeted therapies to manage iron overload and associated complications. The reduced immune response against Porphyromonas gingivalis in these patients suggests a need for enhanced oral health care and possibly prophylactic measures. [ABSTRACT FROM AUTHOR]

HbF induction is an appropriate strategy to ameliorate the severity of β-thalassemia symptoms. Hydroxyurea (HU) is the most common chemical agent introduced as an HbF inducer but responsiveness to HU is variable and the introduction of HbF inducers alternative to HU with low cytotoxicity has been a crucial challenge. Resveratrol is an HbF inducer agent that may have favorable effects on the differentiation of hematopoietic erythroid progenitors (HEPs). The present study aimed to investigate the effect of resveratrol on γ-globin, stress response, and anti-apoptotic gene expression among hydroxyurea (HU)-responders and HU-nonresponders (HU-NR). Four cases of HU-R and four cases of HU-NR were studied. HEPs of the patients were cultured, and the expression of γ-globin, Foxo3, and Bclxl was assessed. Moreover, the differentiation and apoptotic rate of the cells were investigated using flow cytometry analysis. In three cases, the γ-globin gene expression increased after resveratrol treatment. All of the HU-NR patients were also non-responders to resveratrol (Res-NR). The expression of Foxo3 and Bclxl genes was higher in responders to resveratrol (Res-R) compared to non-responders (Res-NR). The rate of apoptosis in Res-R patients was also lower than in Res-NR. Responders to resveratrol also had a higher rate of HEP maturation. The cells of both HU–NR and Res-NR patients could not adapt to stress conditions and proceed to the erythroid differentiation. In conclusion, resveratrol increased the γ-globin expression in HEPs of β-thalassemia patients. The response was observed only in R-HU patients with similar cellular pathways. [ABSTRACT FROM AUTHOR]

Background Cardiac injury caused by iron overload is the leading cause of mortality and morbidity in patients with beta-thalassemia, owing to frequent blood transfusion, increased iron overload, and blood hemolysis. Objective This research aimed to assess several novel cardiac biomarkers in the blood samples of children and adult patients with beta-thalassemia major (βTM), along with their respective control groups. These biomarkers included endothelin 1 (ET-1), N-terminal pro-brain natriuretic peptide (NT-proBNP), atrial natriuretic peptide (ANP), growth differentiation factor-15 (GDF-15), and renalase (RNLS). Methods This case-control study was done on 46 patients with βTM (23 children <18 years, and 23 adults ≥18 years) from the Genetic Hematology Center in Thi-Qar province, Iraq, and 42 comparable controls in 2 groups (21 for each group) in the period from February to April 2023. Results Levels of ET-1, NT-proBNP, ANP, GDF-15, RNLS, and ferritin were higher in the children and adults with βTM than in the control subjects. Conclusion Elevations of the novel cardiac biomarkers ET-1, NT-proBNP, ANP, GDF-15, and RNLS in the sera of children and adult patients with βTM when compared with comparable control subjects confirm that the majority of patients with βTM are at risk of cardiac and cardiovascular complications even when there are no obvious symptoms, especially in children, which gives suitable predictive biomarkers. [ABSTRACT FROM AUTHOR]

Background Thalassemia is a hemoglobin synthesis disorder that causes patients to need lifelong blood transfusions, leading to iron overload and alter organ function, including the liver. Hepcidin, produced by the liver, plays a role in iron homeostasis and should be increased in excess iron stores. However, the level decreases in thalassemia due to some factors, such as ineffective erythropoiesis and liver damage. Recent publications revealed that hepcidin could be associated with iron overload and also a marker of liver diseases. Objective To analyse the correlation between hepcidin level, markers of iron overload, and liver damage in beta-thalassemia major. Methods This cross-sectional study included all ?-thalassemia major age 2-18 years admitted to Dr. Mohammad Hoesin Hospital, Palembang, South Sumatera, who underwent blood transfusions from March to August 2022. We measured the level of iron overload markers, hepcidin, liver function test (LFT), and performed liver ultrasonography (USG). Results Of 97 subjects, median hepcidin level was 10.01 ng/mL and 68% of the subjects showed a decrease. The iron overload parameters were evaluated from serum iron levels (P=0.13), ferritin levels (P=0.90), and transferrin saturation (P=0.29) and 24.7% had abnormal liver USG findings. Spearman’s correlation revealed that only direct bilirubin (DB) (r=0.35; P=0.001) and liver USG (r=0.20; P=0.05) had positive correlations with decreased levels of hepcidin. Also, it had 91.7% sensitivity in predicting liver damage from ultrasound. Conclusion The hepcidin level was not significantly associated with iron overload markers.

Background: Thalassemia is an inherited disorder that is also called mediterranean anemia and is described by a lack of hemoglobin synthesis. β-thalassemia is more common in people of certain origins, particularly those from the Mediterranean region and Arabian Peninsula. The NRAMP1 protein in membranes catalyzes the exit of divalent metal ions from phagolysosomes and their entry into the cytoplasm, including iron and manganese. AIMS: To investigate the possible link between beta-thalassemia major (β-TM) illness and the single-nucleotide polymorphism (3′ untranslated region) rs3 of the NRAMP1 gene. MATERIALS AND METHODS: To investigate the relationship between the condition β-TM and the NRAMP1 gene, the study used restriction fragment length polymorphisms-polymerase chain reaction. The enzyme-linked fluorescent assay was used to quantify the ferritin level. A hematology analyzer was used to quantify hemoglobin concentration. A spectrophotometer technique was used to assess the serum iron, serum total iron-binding capacity (TIBC), and serum unsaturated iron-binding capacity. Results: The results showed a difference in hemoglobin and serum iron levels, serum unbound iron-binding capacity, serum TIBC, and ferritin concentration between individuals suffering from β-thalassemia and healthy groups. In NRAMP1 gene polymorphism, a highly significant difference was observed between the distribution of two alleles (TG− 244 bp, and TG+ 211 bp). Conclusion: During an investigation of NRAMP1 gene polymorphism, a significant variance was observed between β-thalassemia and control groups. Those who carried the (244 bp −TG) allele were found to have a 3.6 times higher risk of developing complications of β-TM than those who carried the (211 bp −TG+) allele.

HbF induction is an appropriate strategy to ameliorate the severity of β-thalassemia symptoms. Hydroxyurea (HU) is the most common chemical agent introduced as an HbF inducer but responsiveness to HU is variable and the introduction of HbF inducers alternative to HU with low cytotoxicity has been a crucial challenge. Resveratrol is an HbF inducer agent that may have favorable effects on the differentiation of hematopoietic erythroid progenitors (HEPs). The present study aimed to investigate the effect of resveratrol on γ-globin, stress response, and anti-apoptotic gene expression among hydroxyurea (HU)-responders and HU-nonresponders (HU-NR). Four cases of HU-R and four cases of HU-NR were studied. HEPs of the patients were cultured, and the expression of γ-globin, Foxo3, and Bclxl was assessed. Moreover, the differentiation and apoptotic rate of the cells were investigated using flow cytometry analysis. In three cases, the γ-globin gene expression increased after resveratrol treatment. All of the HU-NR patients were also non-responders to resveratrol (Res-NR). The expression of Foxo3 and Bclxl genes was higher in responders to resveratrol (Res-R) compared to non-responders (Res-NR). The rate of apoptosis in Res-R patients was also lower than in Res-NR. Responders to resveratrol also had a higher rate of HEP maturation. The cells of both HU–NR and Res-NR patients could not adapt to stress conditions and proceed to the erythroid differentiation. In conclusion, resveratrol increased the γ-globin expression in HEPs of β-thalassemia patients. The response was observed only in R-HU patients with similar cellular pathways.

We investigated depression and anxiety levels and related psychological disorders in adolescents with transfusion-dependent thalassemia (TDT) in this study. The study was conducted in two pediatric hematology outpatient clinics and included adolescents with TDT (14.8 ± 2.4 years, n = 40) in the study and compared them with the healthy age-matched control group (14.3 ± 2.3 years, n = 62). The Turkish version of the Revised Child Anxiety and Depression Scale (RCADS) was used to determine depression, anxiety, and related psychologic disorders (obsession, panic disorder, social phobia). Depression, anxiety, obsession, panic disorder, and social phobia scores were significantly higher in the patient group compared with the control (all p < 0.05). Ferritin levels were positively correlated with total depression, general anxiety, separation anxiety, and social phobia scores, but transfusion frequency and young age were the confounding factors. Patients in early adolescence and those who require more frequent blood transfusions are at higher risk of developing psychological disorders; routine screening for mood disorders should be warranted. Serum ferritin level may be a good warning indicator for early recognition of psychologic disorders in TDT patients. [ABSTRACT FROM AUTHOR]

Mucormycosis is a dreaded condition with high mortality rates noted in immunocompromised hosts. Though iron overload is a known risk factor, children with transfusion-dependent thalassemia have been rarely reported with invasive mucormycosis. We present an 8-year-old girl with transfusion-dependent thalassemia with hypersplenism and iron overload. She had invasive rhino-sino-orbital mucormycosis with a fatal outcome despite aggressive surgical and medical management.

Background and Aim: Kidney dysfunction is reported in significant number of beta thalassemia major children. The aim of this study was to determine the prevalence of glomerular dysfunction in beta-thalassemia major children on regular blood transfusion (BT) and chelation therapy, and to find the correlation between glomerular filtration rate (GFR) estimated by Schwartz formula and Technetium 99m diethylenetriaminepentaacetic acid (99mTc-DTPA) renogram with ferritin level and cumulative transfusion load. Materials and Methods: An observational cross-sectional study conducted was done on 110 children diagnosed with beta-thalassemia major receiving regular BT and chelation therapy. Clinical examination, biochemical investigations (serum creatinine, ferritin) and DTPA renal scan were done. Estimated GFR calculation was done by Schwartz method and 99mTc-DTPA scan. The normal values of GFR were taken from the standard value as per KDIGO guidelines. P < 0.05 was considered statistically significant. Results: The prevalence of glomerular dysfunction by Schwartz formula and DTPA renogram was 44% and 24%, respectively. The GFR calculation (Schwartz formula and DTPA renogram) were weakly positively correlated (r = 0.126, P = 0.547). There was significant association between GFR Schwartz and duration of iron chelation, as children with abnormal GFR had significantly more duration of iron chelation >5 years (28% vs. 4%, P = 0.003). GFR (Schwartz formula and DTPA renogram) showed no association with cumulative transfusion load and disease duration (P > 0.05). GFR Schwartz formula and GFR–DTPA showed no correlation with serum ferritin with r = 0.179, (P = 0.392) and r = 0.278 (P = 0.178). Conclusion: There is a significant derangement in the renal function of children of beta-thalassemia major on chronic BT and iron chelation therapy. GFR holds a direct correlation with the increasing duration of iron chelation.

Beta-thalassemia major(β-TM)is an inherited disease caused by a defect in the synthesis of globin. The disease requires long-term blood transfusion and iron chelator treatment, which can cause various secondary changes in the body and eye tissues. Compared with normal peers, β-TM patients will show changes in the eye such as steeper corneal curvature, shallower anterior chamber, increased lens thickness, shorter axial length, and reduced tear secretion. At the same time, nutritional deficiencies and the use of iron chelator drugs will increase the risk of complicated cataract and retinal degeneration, thus affecting the quality of life of β-TM patients.This article combines relevant domestic and foreign literatures to explore and review the changes in the eye of β-TM patients, with a view to providing valuable insights for clinical practice.

Background: Cardiac iron overload causes severe cardiac complications and is a leading cause of death in beta-thalassemia major patient. T2*CMR can detect preclinical cardiac iron overload. We evaluated the ability of 12-lead electrocardiographic atrial and ventricular depolarization and repolarization parameters to predict cardiac iron loading in TM.Materials and methods: This cross-sectional study was conducted on Patients with Beta thalassemia major; all participants underwent standard 12 lead electrocardiogram during a single study visit and the depolarization and repolarization parameters of ECG were measured and compared to the cardiac iron level detected by T2*CMR, with a detectable cardiac iron cutoff of T2*less than 20 ms.Results: A total of 26 patients (mean 26.19 years old, 34.62% male) were included. Mean T2*CMR values were 21.53 ms (46.15%

Objective: Beta-thalassemia major (B-TM) is an inherited hematological disease that affects nearly 300 million people worldwide. This study aimed to evaluate the effects of group-based mobile learning on stress, anxiety, depression, and pain among beta-thalassemia major patients. Materials and Methods: This randomized clinical study was conducted on 48 patients with beta-thalassemia major in Jahrom, Iran. Participants were randomly assigned to the control and intervention groups. Their partners in the intervention group were trained in self-care through mobile learning. The 21-item Depression, Anxiety, and Stress Scale and a visual analog scale for pain assessment were used to collect the data. Data were analyzed using the Statistical package for the Social Sciences version 23.0. Results: Although there was no significant difference between the control and intervention groups in the mean pre-test scores of depression (P = .21), anxiety (P = .05), stress (P = .48), and pain (P = .46), the mean post-test scores of depression, anxiety, and stress in the intervention group were significantly lower than the control group (P = .0001). The mean scores of depression (P = .33), anxiety (P = .74), stress (P = .83), and pain (P = .6) did not change significantly in the control group, while all these mean scores decreased significantly in the intervention group for DASS (P = .001) and pain (P = .002). Conclusion: Group-based mobile learning is effective in reducing depression, anxiety, stress, and pain in B-TM. [ABSTRACT FROM AUTHOR]

Background: Specific genetic mutations in β - thalassemia lead to complete lack of β - globin chain production, considered as β° thalassemia, others allow some synthesis of the β-globin and are known as β+ thalassemia. Patients need regular blood transfusions to correct anemia and iron-chelating therapy, to control iron overload. Severe anemia, along with excess body iron, and chelation therapy, can result in complications, as bone abnormalities, growth retardation, liver, cardiac, and endocrine disorders. Methods: Cross sectional study subjected to record the impact of genotype on occurrence of bone complications in β-thalassemia cases, while 50 thalassemic cases involved from July 2017 to June 2018. DNA sequencing allowed for the cases' genotype identification. Bone density is evaluated using a dexa scan, translated into a Z-score compared to an appropriate reference, as well as bone imaging and laboratory investigations, which all evaluated as biochemical variables. Results: Low bone mineral density was the commonest bone complication, while osteoporosis and osteopenia represented 34% and 28% respectively, other bone problems presented in 16% of cases. Additionally, a positive correlation between occurrence of osteoporosis, older patients, longer transfusion times, high ferritin levels, and longer transfusion gaps. The three most common mutations discovered were IVS1-110, IVS1-1, and IVS1-6 (28, 26, and 16%, respectively). The β°β° genotype showed a significantly high incidence of complications and low bone density compared to those with β°β+ and β+β+ genotypes. Conclusion: Bone complications are common association in β- thalassemia major cases with a clear correlation between genotype and clinical disease progression as well as its severity. [ABSTRACT FROM AUTHOR]

Objective: The current research aims to investigate the genetic polymorphisms of the HBB gene and their relationship to the incidence of beta-thalassemia. Methods: The study included 30 patients with beta-thalassemia major. Samples were collected during the period between August 2023 and February 2024. Their ages ranged from 2–31 years, in addition to 30 healthy people who did not suffer from hereditary blood diseases as a control group. Their ages ranged from 1–35 years. The exon region of the HBB gene was sequenced using nucleotide sequencing in order to identify the kind and location of mutations that alter the amino acid sequence that makes up the hemoglobin protein. Results: The results of DNA sequencing of the exon region of the HBB gene, which consists of 382 base pairs, showed the presence of the rs713040 variant. This variant revealed that the GG genotype and the G allele, and the AA genotype and the A allele, were more frequent in the patient group compared to the healthy group and may be associated with risk. When comparing some physiological variables with the genotypes of the HBB gene between the group of patients and healthy controls at the rs713040 variant site, the results showed that there were significant differences (P < 0.001, P < 0.05) in the levels of WBC, HB, PLT, PCT, ALP, and Vitamin D in the three genotypes of the variant GG, GA, and AA. Conclusion: The findings suggest that the rs713040 variant of the HBB gene may be associated with an increased risk of beta-thalassemia and that there are significant physiological differences between the genotypes of this variant in patients and healthy controls. Further research is needed to understand the underlying mechanisms and the potential clinical implications of these genetic differences. [ABSTRACT FROM AUTHOR]

Background and Objectives Chelation therapy is essential for beta-thalassemia major. This study aims to determine the complications clinical and laboratory symptoms of monotherapy and combined treatment of iron chelators in beta-thalassemia major patients in Yasuj. Materials and Methods In this cross-sectional-descriptive-analytical study, 103 patients with beta-thalassemia major in Yasuj city were evaluated during 2021-2022. After collecting the demographic, clinical and laboratory information of the patients, the results were reported as mean ± standard deviation and percentage. The degree of statistical differences between ratios was calculated using the Kruskal-Wallis test. Results The average age of our patients was reported to be 24.74 ± 8.34 years. 54.4% (n = 56) of the study patients were men and 45.6% (n = 47) were women. The results of the present study showed that there was a statistically significant difference in mean ferritin among different study groups (p = 0.028). Patients treated with deferoxamine showed the highest mean serum ferritin (5925.5 ± 3397ng%) and patients who took deferoxamine together with deferiprone or deferasirox had a lower mean ferritin compared to deferoxamine alone (3348 ± 2560, 4269 ± 3322 ng%), respectively. Also, the present study showed that after taking iron removers, 47.6% of patients (n = 49) had no clinical complications and 52.4% (n = 54) had at least one complication. Conclusions Our results showed that Deferoxamine can have a great effect in reducing iron deposition and serum ferritin levels in combination with oral drugs. [ABSTRACT FROM AUTHOR]

Background: Cardiac iron overload causes severe cardiac complications and is a leading cause of death in beta-thalassemia major (B-TM) patients. T2-weighted cardiovascular magnetic resonance (T2*CMR) can detect preclinical cardiac iron overload. We evaluated the ability of 12-lead electrocardiographic atrial and ventricular depolarization and repolarization parameters to predict cardiac iron loading in TM. Methods: This cross-sectional study was conducted on patients with beta-thalassemia major; all participants underwent a standard 12-lead electrocardiogram during a single study visit, and the depolarization and repolarization parameters of ECG were measured and compared with the cardiac iron level detected by T2*CMR, with a detectable cardiac iron cutoff of T2* less than 20 ms. Results: A total of 26 patients (mean age of 26.19 years, 34.62% male) were included. Mean T2*CMR values were 21.53 ms (46.15%<20 ms, 53.85%≥20 ms). Among ECG parameters, only Pwd, QTc, and QTcd (P values 0.026, 0.030, and 0.006, respectively) were significantly prolonged in patients with T2*<20 ms compared to patients with T2*≥20 ms. There was a statistically negative correlation between T2*CMR, Pwd, and QTcd (P values 0.028 and 0.021, respectively). Moreover, no correlation was found between Tp-e, Tp-e d, JTc, JTcd, Tp-e/QT, Tp-e/JT, Tp-e/JTc, and T2* values. Conclusion: Pwd and QTcd can be used as alternatives to T2*CMR to predict cardiac iron load levels in patients with beta-thalassemia major [ABSTRACT FROM AUTHOR]

BACKGROUND: β-thalassemia major (βTM) is a genetic disorder characterized by a deficiency in hemoglobin production, ineffective erythropoiesis, chronic hemolysis, lifelong blood transfusions, iron overload, and increased risk of cardiac complications. OBJECTIVE: The study aimed to evaluate the growth differentiation factor-15 (GDF-15) concentration in βTM patients and its correlation with cardiac complications. H63D refers to a specific mutation in the HFE gene, which is associated with hereditary hemochromatosis (HH), a genetic disorder characterized by excessive accumulation of iron in the body. This mutation involves a change of histidine (H) to aspartic acid (D) at position 63 in the HFE protein. This mutation is often only written abbreviated as (H63D). MATERIALS AND METHODS: This case–control study was done on 120 subjects. A total of 60 patient samples were randomly collected from the Genetic Hematology Center at the Babylon Hospital, with an age range of 10–26 years. In addition, 60 samples were collected from healthy children in the same age range as the control group; patients and controls were subdivided into (10–18) and (18–26) year groups. GDF-15 was measured by enzyme-linked immunosorbent assay, and the genotyping of mutation was done by amplification refractory mutation system-polymerase chain reaction technique. RESULTS: The study revealed a significant increase in ferritin (FER) and GDF-15 levels in the patients compared to controls (P < 0.001). GDF-15 showed a direct correlation with age (r = 0.244, P = 0.02) and FER (r = 0.215, P = 0.04). There was a significant difference in H63D mutations between controls and patients (P = 0.044), with a higher proportion of the C-G (heterozygous for the mutant allele) genotype observed in βTM patients (31.67%). Additionally, a notable effect of the H63D mutation on serum ferritin (higher) levels within the βTM group was observed. CONCLUSION: Elevations of the GDF-15 in βTM patients indicate a high risk of cardiovascular complications in patients with βTM. The H63D mutation of the hemostatic iron regulator (HFE) gene is frequently found in βTM. Although a significant effect of the mutation was obtained on serum FER levels, it did not act as a risk factor in βTM patients. However, the frequent presence of the H63D mutation in patients indicated a possible association between single-nucleotide polymorphism and the iron regulation pathway.

Introduction: The prevalence of COVID-19 is slightly lower, and its mortality is higher in beta-thalassemia patients than in the general population. We evaluated the impact of COVID-19 in terms of incidence, clinical course, management, and specific antibody response to vaccination, in a cohort of patients with beta-thalassemia major. Methods: We retrospectively enrolled all transfusion-dependent beta-thalassemia major patients attending the Thalassemia Day Care Center of the University Hospital of Sassari, Italy, from March 1, 2020, to May 31, 2021. For each patient, demographic, clinical, laboratory, instrumental, and therapy data were collected. Patients aged ≥16 years received two doses of mRNA COVID-19 vaccine. Anti-SARS-CoV-2 serum antibodies were tested before and after the first vaccine dose. Results: A total of 68 patients (median age: 36.5 years; IQR: 13–42 years) were included. Nasopharyngeal swab (NPS) for SARS-CoV-2 detection by RT-PCR was positive in 5 (7.35%) of 68 patients (4 symptomatic). No COVID-19-related complications, hospitalizations, or deaths were observed. The transfusion regimen and iron chelation therapy were not significantly changed. Prior to COVID-19 vaccination, anti-SARS-CoV-2 antibodies were tested in 61 patients, 51 negative and 10 positive; five of the latter were also positive for SARS-CoV-2 on NPS. The 46 vaccinated subjects had an antibody response, with higher levels in subjects previously infected with SARS-CoV-2. Conclusion: Our findings suggest that patients with beta-thalassemia major are not at a higher risk of contracting SARS-CoV-2 infection and developing a severe form of COVID-19 despite being considered more vulnerable than the general population. [ABSTRACT FROM AUTHOR]

Background and Aim: Kidney dysfunction is reported in significant number of beta thalassemia major children. The aim of this study was to determine the prevalence of glomerular dysfunction in beta-thalassemia major children on regular blood transfusion (BT) and chelation therapy, and to find the correlation between glomerular filtration rate (GFR) estimated by Schwartz formula and Technetium 99m diethylenetriaminepentaacetic acid (99mTc-DTPA) renogram with ferritin level and cumulative transfusion load. Materials and Methods: An observational cross-sectional study conducted was done on 110 children diagnosed with beta-thalassemia major receiving regular BT and chelation therapy. Clinical examination, biochemical investigations (serum creatinine, ferritin) and DTPA renal scan were done. Estimated GFR calculation was done by Schwartz method and 99mTc-DTPA scan. The normal values of GFR were taken from the standard value as per KDIGO guidelines. P < 0.05 was considered statistically significant. Results: The prevalence of glomerular dysfunction by Schwartz formula and DTPA renogram was 44% and 24%, respectively. The GFR calculation (Schwartz formula and DTPA renogram) were weakly positively correlated (r = 0.126, P = 0.547). There was significant association between GFR Schwartz and duration of iron chelation, as children with abnormal GFR had significantly more duration of iron chelation >5 years (28% vs. 4%, P = 0.003). GFR (Schwartz formula and DTPA renogram) showed no association with cumulative transfusion load and disease duration (P > 0.05). GFR Schwartz formula and GFR-DTPA showed no correlation with serum ferritin with r = 0.179, (P = 0.392) and r = 0.278 (P = 0.178). Conclusion: There is a significant derangement in the renal function of children of beta-thalassemia major on chronic BT and iron chelation therapy. GFR holds a direct correlation with the increasing duration of iron chelation. [ABSTRACT FROM AUTHOR]

BACKGROUND: β-thalassemia major (βTM) is a genetic disorder characterized by a deficiency in hemoglobin production, ineffective erythropoiesis, chronic hemolysis, lifelong blood transfusions, iron overload, and increased risk of cardiac complications. OBJECTIVE: The study aimed to evaluate the growth differentiation factor-15 (GDF-15) concentration in βTM patients and its correlation with cardiac complications. H63D refers to a specific mutation in the HFE gene, which is associated with hereditary hemochromatosis (HH), a genetic disorder characterized by excessive accumulation of iron in the body. This mutation involves a change of histidine (H) to aspartic acid (D) at position 63 in the HFE protein. This mutation is often only written abbreviated as (H63D). MATERIALS AND METHODS: This case–control study was done on 120 subjects. A total of 60 patient samples were randomly collected from the Genetic Hematology Center at the Babylon Hospital, with an age range of 10-26 years. In addition, 60 samples were collected from healthy children in the same age range as the control group; patients and controls were subdivided into (1-18) and (1-26) year groups. GDF-15 was measured by enzyme-linked immunosorbent assay, and the genotyping of mutation was done by amplification refractory mutation system-polymerase chain reaction technique. RESULTS: The study revealed a significant increase in ferritin (FER) and GDF-15 levels in the patients compared to controls (P < 0.001). GDF-15 showed a direct correlation with age (r = 0.244, P = 0.02) and FER (r = 0.215, P = 0.04). There was a significant difference in H63D mutations between controls and patients (P = 0.044), with a higher proportion of the C-G (heterozygous for the mutant allele) genotype observed in βTM patients (31.67%). Additionally, a notable effect of the H63D mutation on serum ferritin (higher) levels within the βTM group was observed. CONCLUSION: Elevations of the GDF-15 in βTM patients indicate a high risk of cardiovascular complications in patients with βTM. The H63D mutation of the hemostatic iron regulator (HFE) gene is frequently found in βTM. Although a significant effect of the mutation was obtained on serum FER levels, it did not act as a risk factor in βTM patients. However, the frequent presence of the H63D mutation in patients indicated a possible association between single-nucleotide polymorphism and the iron regulation pathway. [ABSTRACT FROM AUTHOR]

Beta-thalassemia major is a severe inherited disorder characterized by inadequate production of hemoglobin beta chains, ineffective erythropoiesis, chronic hemolysis and necessitates lifelong transfusions, which lead to iron overload. The disease manifests itself in early childhood and persists throughout an individual’s life with a high risk of developing renal impairment, which cannot be reliably determined using routine markers. The objective of this research was to apply biomarkers to the evaluation of renal injury in pediatric­ patients within the age range of 1–14 years diagnosed with beta-thalassemia major. In the case-control study, the blood samples obtained in the Genetic Hematology Center in Thi-Qar Iraq Province were used: 60 samples from healthy individuals and 60 samples from the patients with beta-thalassemia, subdivided into 1-7 and 8-14 years old groups. The levels of hemoglobin, ferritin, creatinine and potassium were estimated with standard tests, enzyme-linked immunoassay was used to determine the level of neutrophil gelatinase-associated lipocalin (NGAL) and beta-2-microglobulin (β2M) as novel markers of tubular and glomerular dysfunctions. The study revealed a statistically significant decrease in hemoglobin, serum potassium levels and an increase in ferritin, NGAL and β2M levels in the patients from both groups compared to controls and elevation of creatinine level in the 8–14-year-old group. It was concluded that NGAL and β2M levels may be considered indicators for the early diagnosis of renal injury in pediatric patients with beta-thalassemia, as these biomarkers exhibit elevated levels before an increase in creatinine is observed.

We investigated depression and anxiety levels and related psychological disorders in adolescents with transfusion-dependent thalassemia (TDT) in this study. The study was conducted in two pediatric hematology outpatient clinics and included adolescents with TDT (14.8 ± 2.4 years, n = 40) in the study and compared them with the healthy age-matched control group (14.3 ± 2.3 years, n = 62). The Turkish version of the Revised Child Anxiety and Depression Scale (RCADS) was used to determine depression, anxiety, and related psychologic disorders (obsession, panic disorder, social phobia). Depression, anxiety, obsession, panic disorder, and social phobia scores were significantly higher in the patient group compared with the control (all p < 0.05). Ferritin levels were positively correlated with total depression, general anxiety, separation anxiety, and social phobia scores, but transfusion frequency and young age were the confounding factors. Patients in early adolescence and those who require more frequent blood transfusions are at higher risk of developing psychological disorders; routine screening for mood disorders should be warranted. Serum ferritin level may be a good warning indicator for early recognition of psychologic disorders in TDT patients.

Abstract Background Resilience is the ability to overcome adversity in response to a potentially traumatic event. It can relieve people’s discomfort and build personal capacity when facing a stressful situation such as beta thalassemia major. Resilience is a complex and multidimensional concept and is influenced by protective and risk factors. Therefore, the aims of the present study were to (1) investigate the relationship between protective (social support and hope) and risk (uncertainty and defensive coping) factors with resilience and (2) examine the mediating role of courageous coping between these protective and risk factors in resilience. Methods This descriptive-analytical study was performed on 312 adolescents and young adults with beta-thalassemia major aged 12–24 years; they were selected using purposeful sampling from two different outpatient thalassemia clinics in the south of Iran. Data were collected in a face-to-face survey using Zimmet Multidimensional Scale of Perceived Social Support, Herth Hope, Stewart Uncertainty in Illness scale, Jalowiec Coping, and Connor–Davidson resilience Scale from April 2022 to November 2022. The collected data were analyzed using descriptive tests, Pearson correlation, and a structural equation model. Results According to the main findings of mediation analysis, courageous coping partially mediated the relationship between social support and resilience [(β = 0.042; 95% BC CI (0.003, 0.131)] and fully mediated the relationship between hope and resilience [(β = 0.166; 95% BC CI (0.031, 0.348)]. In other cases, uncertainty and defensive coping had a direct and indirect effect on resilience, respectively. Conclusion Based on these results, health professionals and healthcare policymakers should consider this mediator in developing programs to improve resilience. Also, the use of courageous coping could modulate the effect of defensive coping on resilience. Therefore, teaching the use of courageous coping can play an important role in improving resilience.

Introduction: Hypogonadism is one of the most frequent complications in transfusion-dependent thalassemia patients and early recognition and treatment is the core element in restoring impaired gonadal function. Despite the high burden of disease, relevant studies are scarcely addressing the gonadal function of such patients in Bangladesh. The pattern of gonadal function in transfusion-dependent thalassemia patients must be characterized before planning a generalized management plan. Moreover, since iron overload is a key reason behind hypogonadism in thalassemia patients, investigating the role of serum ferritin level as a diagnostic tool for hypongadism was also an aim of this study. Methods: This cross-sectional study was conducted at the Department of Transfusion Medicine of the Bangabandhu Sheikh Mujib Medical University. According to the inclusion and exclusion criteria, a total of 94 patients were enrolled in this study. A detailed history and thorough clinical examination were carried out in each patient and recorded using a pretested structured questionnaire. In addition, the laboratory assessment of serum ferritin, luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone and estradiol in serum were also performed. The data were analyzed using the STATA (v.16). Results: The mean age of the patients with transfusion-dependent thalassemia was 18.81 ± 4.65 (SD), with 53.3% of the patients being male. The overall prevalence of hypogonadism was 35.11%, 18.1% being normogonadotropic, 11.7% being hypogonadotropic and 5.3% being hypergonadotropic. The serum ferritin level was significantly higher (p < 0.001) in patients with hypogonadism (Eugonadal: 2,174.79 (± 749.12) ng/ml; Hypogonadal: 3,572.59 (± 1,199.49) ng/ml). The area under the receiver operating characteristic (ROC) curve of serum ferritin was high (0.83) and the p-value was highly significant (< 0.001). Conclusion: Therefore, the serum ferritin level and gonadal hormone analysis of transfusion-dependent thalassemia patients can be considered a screening tool for assessing gonadal function and early detection and prevention of hypogonadism.

Background: Beta-thalassemia major (BTM) is still mostly treated with routine blood transfusions. One of the most prevalent transfusion-transmitted infections (TTI) of clinical significance is the hepatitis C virus (HCV). Objectives: To estimate the prevalence of HCV infection among thalassemic patients in Qena hospitals, and to identify the possible risk factors associated with HCV infection. Patients and methods: a cross-sectional study involving 400 thalassemic patients with an age ranging from 1.5 to 29 years, a mean age of 12.8 ±7.3 years, 176 (44%) were male and 224 (56%) were female, and 75.5% were from rural areas. All are reviewed by a structured questionnaire. Results: The study revealed that the prevalence of HCV infection in the studied thalassemic patients was 9.5%. The most important risk factors were the duration of blood transfusion for more than 15 years, previous surgery, dental procedure, and splenectomy (P

Objectives: To determine the molecular characterisation of beta-thalassemia major patients, pattern of major endocrine complications and its association with haemoglobin subunit beta gene variants. Method: The cross-sectional study was conducted from November 2021 to November 2022 after approval from the ethics review committee of Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan, and comprised of 88 patients with beta thalassemia major aged >8 years and having serum ferritin level >1000µg/L. The subjects were analysed for haemoglobin subunit beta gene variants and major endocrine complications, like growth retardation, hypogonadism, hypothyroidism, hypoparathyroidism and diabetic abnormalities using an automatic chemistry analyser, fully automatic chemiluminescence immunoassay analyser, enzyme-linked immunosorbent assay and real-time polymerase chain reaction. Data was analysed using SPSS 25. Results: Of the 88 subjects, 40(45.4%) were girls and 48(54.5%) were boys. The overall mean age was 12±2.81 years. Of the total, 55(62.5%) had growth retardation, 41(46.6%) were cases of hypogonadism, 16(18.1%) hypothyroidism, 5(5.7%) hypoparathyroidism, 3(3.4%) diabetes mellitus and 8 (9.1%) had impaired glucose tolerance. Also, 65(73.9%) patients confronted at least one endocrine complication. Endocrine complications were strongly associated with serum ferritin levels (p=0.000). The most common haemoglobin subunit beta gene variant identified was IVSI-5 (G>C) in 36(40.9%), and the least identified variant was cluster of differenctiation-26 (G>A) 1(1.1%). The association between haemoglobin subunit beta gene variants with endocrine complications was statistically non-significant (p>0.05). Conclusion: IVSI-5 (G>C) was found to be the most frequent haemoglobin subunit beta gene variant among beta-thalassemia major patients. Key Words: Beta-thalassemia major, Endocrine complications, Growth retardation, Hypothyroidism, Parathyroidism, Diabetes mellitus.

Background: Resilience is the ability to overcome adversity in response to a potentially traumatic event. It can relieve people's discomfort and build personal capacity when facing a stressful situation such as beta thalassemia major. Resilience is a complex and multidimensional concept and is influenced by protective and risk factors. Therefore, the aims of the present study were to (1) investigate the relationship between protective (social support and hope) and risk (uncertainty and defensive coping) factors with resilience and (2) examine the mediating role of courageous coping between these protective and risk factors in resilience. Methods: This descriptive-analytical study was performed on 312 adolescents and young adults with beta-thalassemia major aged 12–24 years; they were selected using purposeful sampling from two different outpatient thalassemia clinics in the south of Iran. Data were collected in a face-to-face survey using Zimmet Multidimensional Scale of Perceived Social Support, Herth Hope, Stewart Uncertainty in Illness scale, Jalowiec Coping, and Connor–Davidson resilience Scale from April 2022 to November 2022. The collected data were analyzed using descriptive tests, Pearson correlation, and a structural equation model. Results: According to the main findings of mediation analysis, courageous coping partially mediated the relationship between social support and resilience [(β = 0.042; 95% BC CI (0.003, 0.131)] and fully mediated the relationship between hope and resilience [(β = 0.166; 95% BC CI (0.031, 0.348)]. In other cases, uncertainty and defensive coping had a direct and indirect effect on resilience, respectively. Conclusion: Based on these results, health professionals and healthcare policymakers should consider this mediator in developing programs to improve resilience. Also, the use of courageous coping could modulate the effect of defensive coping on resilience. Therefore, teaching the use of courageous coping can play an important role in improving resilience. [ABSTRACT FROM AUTHOR]

Objective: To determine the frequency of hypothyroidism in patients with beta-thalassemia major in Paediatric department of Pak Emirates Military Hospital, Rawalpindi Pakistan. Study Design: Cross-sectional study. Place and Duration of Study: Paediatric Medicine Department, Pak Emirates Military Hospital, Rawalpindi Pakistan, from Nov 2018 to Oct 2019. Methodology: All transfusion dependant beta-thalassemia major (BTM) patient sir respective of age and gender were consecutively enrolled. For the assessment of thyroid function, a random sample of 3 ml venous blood was drawn. The presence of increased thyroid stimulating hormone and normal T4, T3 were labelled as compensated, increased thyroid stimulating hormone, decreased T4 and/or T3 as uncompensated. Results: Of 73 patients, the mean age of the patients was 7.0±3.87 years. All the patients were getting iron chelation therapy. The mean serum ferritin level was 3911.68±2017.36 ng/mL. Twenty-eight (38.4%) cases were hypothyroid. Subclinical hypothyroidism was documented in 25(89.3%) while clinical hypothyroidism in 3(10.7%) patients. Patients with age >8 years (p=<0.001), >2 years of age at the time of 1st blood transfusion (p<0.001)>8 numbers of blood transfusion (p<0.001) and >4000ng/dl serum ferritin levels (p<0.007) were noted as factors significantly associated with hypothyroidism. Conclusion: A considerable number of patients were affected with hypothyroidism. Moreover, high serum ferritin level and a high number of blood transfusions were found to be significant determinants. [ABSTRACT FROM AUTHOR]

Background and Objectives The present study examined the oral health-related quality of life in patients with thalassemia major in Khuzestan province. Subjects and Methods This was a descriptive analytical study. The case group included 120 patients suffering from thalassemia major disease who presented to Shafa Hospital in Ahvaz city in 2021, and the control group consisted of 120 healthy people who were either companions of the patients or their family members. The data collection tools were two standard questionnaires related to dry mouth and a questionnaire dedicated to oral healrelated quality of life. Results There was a significant difference between patients with beta-thalassemia major and healthy people in terms of their mean overall score of oral health-related quality of life and its dimensions (except for physical disability) (P<0.05). There was no significant difference between the two groups in terms of the mean score of physical disability (P>0.05). A significant difference was observed between the two groups in terms of the mean score of functional limitation in an age-dependent manner (P<0.05). Finally, the two groups were significantly different in terms of the mean score of physical disability as far as age and dry mouth were concerned (P<0.05). Conclusion According to the results obtained from the present study, appropriate psychological measures and strategies should be implemented to improve the oral healthrelated quality of life in patients with beta-thalassemia major. [ABSTRACT FROM AUTHOR]

BACKGROUND: Despite optimal transfusion and chelation therapy, beta-thalassemia patients still commonly experience various complications, including renal complications, which may affect their survival. This case-control study involved pediatric patients with beta-thalassemia major (ß-TM). MATERIALS AND METHODS: This case-control study involved pediatric patients with ß-TM, a total of 60 patient samples were randomly collected from the Genetic Hematology Center at the Dhi-Qar Health Directorate, with an age range of 1-14 years. In addition, 60 samples were collected from healthy children in the same age range as the control group. In this study, the glomerular injury was predicted by measuring the concentration of serum cystatin-C (Cys-C), and the tubular injury was predicted by measuring the concentration of serum netrin-1 (NTN-1). Routine markers, such as hemoglobin (Hb) level, ferritin, serum albumin, and creatinine, were also examined for the patients and the control group. RESULTS: The results showed a statistically significant increase in serum Cys-C in the patient group compared to the control group (P < 0.001) and a significant increase of serum NTN-1 in ß-TM patients compared to the control group (P < 0.001). In addition, the study showed a statistically significant decrease in Hb, serum albumin, and creatinine and a significant increase in serum ferritin in the patients group compared to the control group. In conclusion, from the results of this study, we can conclude that the serum Cys-C and NTN-1 measurements can be used as predictive biomarkers for glomerular and tubular injury and increase with age. CONCLUSION: Predicting glomerular and tubular injury using the measurement of serum Cys-C and NTN-1 has improved significantly and advanced with age. [ABSTRACT FROM AUTHOR]

BACKGROUND: Despite optimal transfusion and chelation therapy, beta-thalassemia patients still commonly experience various complications, including renal complications, which may affect their survival. This case–control study involved pediatric patients with beta-thalassemia major (β-TM). MATERIALS AND METHODS: This case–control study involved pediatric patients with β-TM, a total of 60 patient samples were randomly collected from the Genetic Hematology Center at the Dhi-Qar Health Directorate, with an age range of 1–14 years. In addition, 60 samples were collected from healthy children in the same age range as the control group. In this study, the glomerular injury was predicted by measuring the concentration of serum cystatin-C (Cys-C), and the tubular injury was predicted by measuring the concentration of serum netrin-1 (NTN-1). Routine markers, such as hemoglobin (Hb) level, ferritin, serum albumin, and creatinine, were also examined for the patients and the control group. RESULTS: The results showed a statistically significant increase in serum Cys-C in the patient group compared to the control group (P < 0.001) and a significant increase of serum NTN-1 in β-TM patients compared to the control group (P < 0.001). In addition, the study showed a statistically significant decrease in Hb, serum albumin, and creatinine and a significant increase in serum ferritin in the patients group compared to the control group. In conclusion, from the results of this study, we can conclude that the serum Cys-C and NTN-1 measurements can be used as predictive biomarkers for glomerular and tubular injury and increase with age. CONCLUSION: Predicting glomerular and tubular injury using the measurement of serum Cys-C and NTN-1 has improved significantly and advanced with age.

Key messages For individuals with beta-thalassemia major, transient elastography is a noninvasive method for assessing liver fibrosis A further contributing factor to liver fibrosis in these patients is HCV infection acquired during transfusional therapy. Patients' advanced age and a history of numerous transfusions may increase their chance of developing liver fibrosis.

Objectives: To determine the frequency of endocrine disorders in Beta-Thalassemia Major (BTM) patients presenting for Endocrine Evaluation to the Department of Diabetes, Endocrinology and Metabolic Diseases, Hayatabad Medical Complex, Peshawar, Pakistan, a tertiary care hospital. Method: This descriptive study was conducted in the Department of Diabetes, Endocrinology and Metabolic Diseases, Hayatabad Medical Complex, Peshawar from October 2019 to August 2021. All patients with BTM presenting for endocrine evaluation were included in the study. Height and weight were assessed and plotted on the standard charts. For secondary sexual characteristics tanner staging was used. Blood samples for hormonal profile were taken according to standard protocol and sent for endocrine assessment. Results: A Total of 135 patients BTM were enrolled in the study comprising of 70 (51.9%) males and 65 (48.1%) females. Their mean age was 14.8±3.9 years, mean height 138.5±13.01 cm, mean weight 35.9±8.4 kg, mean BMI 18.6±2.8 kg/m2, mean age of transfusion started was 6.7±3.99 months, mean duration of transfusion 13.6±4.03 years and mean duration of chelation therapy received 6.1±4.5 years. Regarding endocrine complications, out of 135 patients assessed, one hundred (74.1%) had height less than 5th centile and fifteen (11.1%) had diabetes mellitus. For thyroid and parathyroid function, 58 and 13 were tested respectively, out of which 16 (27.6%) and 6 (46.2%) had thyroid dysfunction and hypoparathyroidism. Out of 91 patients assessed for pubertal delay, 61 (67.03%) had delayed puberty. Conclusions: High percentage of endocrine complications were found in patients with BTM. Severity and multiplicity of endocrine organs involvement was dependent on duration of the disease and lack of compliance with chelation therapy. [ABSTRACT FROM AUTHOR]

Aims: In a cross-sectional study we aimed to assess the correlation between ultrasound transient elastography (TE), serum ferritin (SF), liver iron content (LIC) by magnetic resonance imaging (MRI) T2* along with the fibrosis-4 (FIB-4) score as a screening tool to detect significant liver fibrosis among chronically transfusion-dependent beta-thalassemia (TDT) patients. Methods: The study was conducted at a tertiary health center treating TDT patients. Transient elastography was performed within 3 months of Liver MRI T2* examinations at the radiology department. T-test for independent data or Mann-Whitney U test was used to analyze differences between groups and Spearman correlation with linear regression analysis were used to evaluate the correlation between TE liver stiffness measurements and Liver MRI T2* values along with SF levels. Results: In this study on 91 patients, the median age (IQR) of the subjects was 33 (9) years and body mass index was 23.8 (6.1) kg/m2. Median (IQR) TE by fibroscan, MRI T2*(3T), Liver iron concentration (LIC) by MRI Liver T2* and SF levels were 6.38 (2.6) kPa, 32.4 (18) milliseconds, 7(9) g/dry wt., and 1881 (2969) ng/mL, respectively. TE measurements correlated with LIC g/dry wt. (rS =0.39, p=0.0001) and with SF level (rS =0.43, P=0.001) but not with MRI T2* values (rS =-0.24; P=0.98). Conclusion: We observed that in transfusion dependent β thalassemia major patients there was a significant correlation with the TE measured by ultrasound transient elastography, and LIC by MRI as well as SF levels but not with the fibrosis-4 (FIB-4) score. Key Words: Serum ferritin; Fibrosis-4; Transfusion-dependent beta-thalassemia; Transient elastography; Magnetic resonance imaging

Background: Thalassemia is characterized by genetic abnormalities in the synthesis of hemoglobin, leading to a decrease or missing production of one or more in the globin chains. Consequently, this disrupts the synthesis of hemoglobin molecules, resulting in anemia, which is a prominent manifestation of thalassemia. Iron is an essential element for cellular health and is involved in various functions, including oxygen transportation, biomolecule synthesis, respiration, and homeostasis. Hepcidin, a low molecular weight peptide produced in the liver, plays a crucial role in regulating iron homeostasis. Objectives: The current study aims to inspect the correlation of Hepcidin with Hemoglobin, Ferritin, and Iron Parameters in Patients with Beta-Thalassemia Major. Methods: The serum ferritin of all the subjects was measured by the ELFA technique (Enzyme Linked Fluorescent Assay). The Serum Hepcidin was measured by the ELISA kit, and Iron, UIBC, and TIBC were measured via colorimetric methods. Results: The {mean ± SD} of ages and genders among the patients and healthy groups were not significant. The {mean ± SD} of Hb and serum levels of Iron, UIBC, TIBC, Hepcidin concentration, and BMI between the patients and healthy groups were statistically significant. The study results of the correlation between Hepcidin and other markers in the beta-thalassemia patients group showed a non-significant negative correlation of Hepcidin with TIBC and UIBC. While there was a non-significant weak correlation between Hepcidin with Hb and Ferritin. The results also showed a non-significant positive correlation between Hepcidin and Iron. Conclusion: This study showed a marked reduction in hemoglobin production and high levels of Iron and Ferritin concentrations, while the concentrations of TIBC and UIBC were observed to decrease in the individuals with this disease compared to the healthy individuals. This study showed low Hepcidin concentration in the β-TM major patients compared to the healthy subjects. [ABSTRACT FROM AUTHOR]

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Context: Chronic diseases such as beta-thalassemia major among children impact their parents in various ways, as they face continuous stress and strain while striving to provide their children with a best possible care. Literature related to health-related quality of life (HRQoL) among parents of children with beta-thalassemia major are limited among Indian population. Aims: This study aimed to assess the HRQoL of parents of children with beta-thalassemia major attending a tertiary care institution in Eastern India and its various correlates. Settings and Design: This cross-sectional study was conducted at a tertiary care institution in Eastern India. Materials and Methods: A sample size of 192 was selected using the simple random sampling among parents with children suffering from beta-thalassemia major who fulfilled the inclusion criteria. Study participants were interviewed regarding different variables and their HRQoL, using a predesigned, pretested, and semi-structured schedule and the Short Form 36 Health survey, respectively, after obtaining ethical clearance from the Institutional Ethics Committee and informed consent from them. Statistical Analysis Used: Data were entered in MS Excel and analyzed using IBM SPSS 20.0 version (Armonk, NY: IBM Corp). Results: The mean HRQoL score was found to be 38.7 ± 11.3 with an interquartile range of 23–59.7. The Spearman's rho correlation matrix showed that HRQol of parents is weakly positively correlated with the educational status of the father of the child (r = 0.2), educational status of the mother of the child (r = 0.1), family history of thalassemia (r = 0.2), ongoing treatment (r = 0.1), and duration of blood transfusion (r = 0.2). Conclusions: Hence, we can conclude that HRQoL of parents of beta-thalassemia major children was correlated with the educational status of the father and mother, family history of thalassemia, ongoing treatment, and duration of blood transfusion.

Aim: This study aimed to evaluate the role of real‐time three‐dimensional (four‐dimensional) and speckle tracking echocardiography for early detection of left ventricular systolic dysfunction and also for the relationship between myocardial deformation parameters and myocardial iron load which is measured by cardiac magnetic resonance relaxation time T2* values in asymptomatic children with beta‐thalassemia major. Material and Methods: This multicenter cross‐sectional study included 40 patients (mean age 15.4 ± 2.9, 42.1% male) and 40 healthy children whose age, gender, and body mass index‐matched with patients. Each participant underwent conventional echocardiography and tissue Doppler imaging. Left ventricular ejection fraction; global longitudinal, circumferential, radial strains; twist; and torsion were measured by real‐time three‐dimensional and speckle tracking echocardiography. Cardiac magnetic resonance imaging T2* was measured in patients. Results: Left ventricular global longitudinal, circumferential, and radial strains were decreased despite preserved global ventricular function in patients compared to healthy children (p = p =.029, p = p <.001, p =.003, respectively). There were no statistically significant differences between patients with T2* ≥ 20 ms and patients with T2* < 20 ms for all echocardiographic parameters. Also, there were no significant correlations between all echocardiographic parameters and T2* values in all patients, those with T2* ≥ 20 ms, and T2* < 20 ms. Conclusion: We found that even in asymptomatic children with beta‐thalassemia major, left ventricular longitudinal, circumferential and, radial functions were impaired by real‐time three‐dimensional (four‐dimensional) and speckle tracking echocardiography. This novel echocardiographic method might be an important tool for detecting subclinical left ventricular systolic dysfunction irrespective of T2* values. [ABSTRACT FROM AUTHOR]

Objective: Beta-thalassemia major (β-TM) is a genetic disorder characterized by ineffective erythropoiesis and chronic hemolytic anemia, necessitating lifelong blood transfusions and leading to severe complications. This study, termed THALEMPA by the authors, investigated the effect of empagliflozin (EMPA) on β-TM outcomes in patients with type 2 diabetes mellitus (T2DM), focusing on disease severity and associated complications of iron overload and hyperuricemia., Methodology: This study conducted a single-center prospective observational investigation involving adults diagnosed with β-TM and T2DM. A total of 20 carefully selected patients were stratified into two groups based on their medical condition: the EMPA group, receiving 10 mg of empagliflozin, and a control group, receiving standard care. This focused cohort size was chosen to ensure a detailed, in-depth analysis of the treatment effects within this specific patient population. Over three months, both groups were closely monitored for β-TM outcomes. The study assessed β-TM severity parameters such as hemoglobin levels, blood transfusion frequency, aspartate aminotransferase (AST), alanine aminotransferase (ALT), left ventricular ejection fraction percentage, and spleen size. Additionally, β-TM complications were evaluated through serum ferritin and uric acid levels., Results: Our analysis revealed that EMPA increased hemoglobin levels by up to 0.56 g/dL compared to baseline ( P  < 0.05). Liver enzyme levels significantly improved with EMPA by the third month. AST and ALT decreased by 36.22% and 33.36%, respectively, from baseline levels ( P  < 0.05), highlighting EMPA's potential benefits for β-TM severity. Serum ferritin and uric acid levels decreased by 27.93% and 21.29%, respectively, over three months on EMPA ( P  < 0.05). However, other parameters did not show significant changes post-EMPA., Conclusions: This study demonstrates the significant impact of EMPA treatment over three months on β-TM patients with T2DM, evidenced by notable improvements in hemoglobin levels and reductions in liver enzymes, as well as in complications related to iron overload and hyperuricemia. Future research should confirm these benefits over longer durations and assess broader patient outcomes such as quality of life., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. The Al-Nahrain College of Medicine Research Ethical Committee issued approval 20240237. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Ibraheem et al.)

Abstract Background Beta-thalassemia major patients are at increased risk of complications including endocrinopathies and bone disease due to iron overload. So, this study aimed to assess the growth parameters, serum levels of 25-OH-vitamin D, calcium, and phosphorous in children with beta-thalassemia major. This was a case-control study that included 55 children with beta-thalassemia major compared with 30 sex- and age-matched healthy children that served as a control group. All enrolled children were subjected to full history taking, clinical examination including anthropometric measurements, and laboratory investigations including complete blood count, serum ferritin, levels of serum calcium, phosphorus, and 25-OH-vitamin D. Results Body mass index was statistically significantly lower in the thalassemic group (P < 0.001). It was observed that vitamin D levels were significantly lower in thalassemic patients than in controls (P value < .0001). The mean serum 25-OH-vitamin D levels were 19.84 ± 5.79 ng/ml and 44.98 ± 5.77 ng/ml, respectively; 22 cases (40%) had insufficient vitamin D, and 5 cases (9%) had deficient vitamin D. Regarding serum calcium and phosphorous, there was no significant difference between the thalassemic and control groups. Conclusion Children with beta-thalassemia major had low body mass index and metabolic abnormality in the form of lower serum levels of vitamin D that signify the importance of therapeutic interventions.

β-thalassemia are a group of inherited blood disorders with reduced hemoglobin levels. β-thalassemia major is the severe form of disease, and the patients often display an array of associated organ dysfunction which thus increase the risk associated with surgery and anesthesia. Patients with β-thalassemia major can have multiple pathological defects that may lead to thromboembolic events. Here, we report such a case who was complicated by occurrence of cerebral sinus thrombosis and presented for decompressive hemicraniectomy under general anesthesia. The anesthetic challenges during in such scenario have been discussed.

Objectives: Thalassaemia major (TM) is one of the most common chronic genetic disorders in today's world. The psychological impacts of this disease can affect patients' hope. Considering the positive role and importance of suitable educational methods, this study aimed to determine the effect of peer education on the hope of patients with TM. Methods: This quasi-experimental single-group study included patients with TM undergoing treatment at the Imam Khomeini Hospital, Zabol, Iran, between March and July 2020. A continuous sampling method was used and data collection tools included a demographic questionnaire and Snyder's Hope Scale. Patients were educated in groups by eligible peers in two sessions for 60 minutes per session. Hope was measured before (pre-test) and one month after (post-test) the educational sessions. Descriptive statistics and a paired sample student t-test were used. Results: A total of 50 participants were included in this study. The mean age of the participants was 24.5 ± 4.24 years. At the pre-test, the mean total hope score was 26.72 ± 5.82; this increased to 28.21 ± 5.11 at the post-test (P = 0.028). The mean hope score of patients in the pathway thinking dimension significantly increased after peer education (P = 0.01). Despite an increase in the score of the agency thinking dimension, this was not statistically significant (P = 0.297). Conclusion: The findings of this study indicate that peer education can improve hope in patients with TM. Considering that this educational method is easy, cheap and experienced-based, it can be used in combination with other healthcare measures to improve TM patients' hope. [ABSTRACT FROM AUTHOR]

Secondary malignancy of donor origin in the form of acute lymphoblastic leukemia (ALL), post-allogeneic hematopoietic stem cell transplant (HSCT) for beta thalassemia (BT) major, is exceedingly rare. A10 year old male child, the first and only product of non-consanguineous conception, was diagnosed with BT major at the age of 9 months when he had diarrhea and his parents (both of whom had thalassemia minor) noticed yellowing of the skin. Until the age of 10 years, he received regular blood transfusion and iron chelation, when the requirements got escalated and he consequently had to undergo myeloablative haploidentical HSCT from his mother. The post-transplant period was uneventful, and follow up with short tandem repeat chimerism analysis revealed complete donor chimerism on all occasions. Five years after the transplant, he developed fever with pancytopenia. Peripheral smear (PS) and bone marrow revealed blasts that were immunophenotypically precursor B-ALL. Cytogenetics revealed twenty diploid female metaphases with modal karyotype 46, XX[20], and again, complete donor chimerism was noted. Thus, a diagnosis of donor cell leukemia (DCL) was considered. Induction chemotherapy was initiated; however, the patient succumbed to systemic sepsis midway through induction therapy. No evidence of leukemia was noted in the patient's mother, who was followed up with PSs for 5 years. DCL has a poor prognosis. Greater understanding of the disease biology could allow for appropriate donor screening, notification and shielding the recipient from DCL and its grave consequences. [ABSTRACT FROM AUTHOR]

Background and Objectives Blood transfusion in patients with beta-thalassemia major can be considered as one of the major individual and social problems of this disease. This study is aimed to evaluate the effect of an aerobic exercise course on transfusion blood volume of patients with β-thalassemia major. Materials and Methods The present study was a quasi-experimental study with pre-test, post-test design with a control group in 2020-2021 in Zahedan. The subjects of the present study (24 patients with thalassemia major aged 15 to 35 years) were randomized by variable block method and were divided into two groups of exercise (n= 14) and control (n= 10). Participants in exercise group started regular walking for 8 weeks. Paired t- test statistical method was applied to analyse the data within the groups while analyse of covariance (ANCOVA) method was utilized to compare the groups, p< 0.05. Results Intra-group comparisons revealed the reduction of transfusion blood volume following 8 weeks of aerobic exercise in both exercise (2421.43 ± 462.73 mL, p = 0.001) and control (2130.0 ± 330.15 mL, p = 0.039) groups, when compared to the pre-study exercise. Results of intergroup comparisons demonstrated no significant difference in two studied groups (p = 0.221), although the reduction of transfusion blood volume in exercise group was more evident than the control group. Conclusions According to the results, it is concluded that doing aerobic exercise training accompanied with the treatment methods utilized for thalassemia major patients reduced their need for blood transfusions, when exercise duration is sufficiently long. [ABSTRACT FROM AUTHOR]

Introduction: Beta-thalassemia is an autosomal recessive disease that occurs as a result of a disorder in the (β-globin chains synthesis), and the gold standard method for diagnosis is genetic mutation analysis. It is important to know the distribution of mutations according to regions and races. The aim of this study is to document the mutations in the beta-globin gene of beta-thalassemia major and intermedia patients who were followed and treated in Sanliurfa province, and to examine the relationships between these mutations by defining them according to gender, nationality, consanguineous marriage, history of disease in siblings and blood type.Methods: The files of 272 patients diagnosed with beta-thalassemia major and intermedia followed up in the Pediatric Hematology-Oncology outpatient clinic of Sanliurfa Training and Research Hospital between August 2016 and August 2017 were retrospectively reviewed and mutation analyzes were documented. Coding exons and exon-intron junction regions of beta globin-HBB gene were amplified by PCR method and then DNA sequencing was performed. Gender, nationality, consanguineous marriage, sibling history and blood type information were recorded.Results: Out of 272 patients, 94.1% were thalassemia major and the others were thalassemia intermedia. Approximately one third of the patients (30.1%) were foreign nationals. A total of 27 different mutations in the beta-globin gene were detected. The most common mutation is IVS-I-110 c.93-21 (G gt; A) (23.1%), which is followed by IVS-I-1 c.92 + 1 (G gt; A) (15.8%) and Codon 39 c.118 (C gt; T) (11.5%). One hundred and forty-two individuals (52.2%) had no sibling history, while 103 (37.9%) had one sibling and 27 (9.9%) had two siblings with thalassemia disorder. First-degree, second degree and third degree consanguineous marriages were present in 42.6% (n = 116), 8.1% (n = 22), 11% (n = 30) of parents, respectively.Conclusions: Beta-thalassemia disease is a common hematological condition in Sanliurfa. Approximately one-third of the patients who apply are foreign nationals. Correct identification of beta-globin gene mutations will guide genetic counseling and preventing prenatal disease. This data can contribute to the national thalassemia prevention program in Turkey.

Oxidative stress is defined as a disturbance in the balance between oxidants and antioxidants in favor of the former, which leads to molecular and cellular damage. Free radicals play an important role in the pathogenesis of a large number of diseases. Thalassemic syndromes are increasingly perceived as diseases associated with oxidative damage. The premature hemolysis of erythroid cells and the oxidative effect of the free iron accumulated in the body due to the regular hemotransfusions are important for the reduced survival of the patients with beta-thalassemia Lipids are the most favored target for free-radical damage because they are easily oxidized. Lipid peroxidation is the main molecular mechnism of free radical toxicity. Malondialdehyde, in its role as an end compound of lipid peroxidation, is widely used as an index of oxidative status, respectively a measure of oxidative damage. It has been proven that the processes for its formation play a major role in the pathogenesis of premature atherosclerosis. In recent years, numerous studies have demonstrated elevated levels of malondialdehyde in transfusion-dependent patients with beta-thalassemia major. In this group of patients, altered vascular elasticity with thickening of the intima of the vascular wall and arterial stiffness are additionally demonstrated. A higher incidence of vascular complications, premature arterial aging and early atherosclerosis was also observed. Therefore, it is necessary to start the follow up and the evaluation of the carotid walls of the patients at an earlier age. [ABSTRACT FROM AUTHOR]

Background:Beta-thalassemia is an autosomal recessivehemoglobinopathy with frequent skeletal complications, often debilitating in adolescent patients. We aim to evaluate the bone mineral density (BMD) by dual-energy x-ray absorptiometry (DEXA) and ascertain osteoporosis/osteopenia frequency in patients with β-thalassemia major. Methodology:In this cross-sectional study, 36 adolescent patients with β-thalassemia major were enrolled from June 2015 to March 2017. BMD was measured in the anteroposterior lumbar spine (L1-L4) and femoral neck by DEXA. For the biochemical estimations, blood and urine samples were obtained and analyzed. The results of a bone density test were presented as T and Z scores. Results:There were 20 male and 16 female patients with a mean age of 21.33 ± 3.7 years. The mean bone mineral content (BMC) was 20.10 ± 6.0 gm, and the mean BMD was0.65 ± 0.07 gm/cm2. The mean T score was -3.17 ± 1.04, and the Z score was -3.06 ± 1.06. All patients had low BMD, as depicted by their T or Z scores. The reported frequency of osteoporosis and osteopenia was 77.7% and 22.2%, respectively. Conclusion:All Beta-thalassemia major patients had low BMD with a remarkable incidence of osteoporosis. It is recommended to perform an annual BMD among thalassemic patients to prevent fatal consequences and achieve an optimal bone density among such patients.

Background: Beta-thalassemia major is a type of inherited blood disease that results in variable outcomes such as severe anemia due to haemoglobin chains. Recurrent and lifelong blood transfusions as a treatment in betathalassemia major disease lead to iron deposition in various organs and cause the failure of multiple organs. Failure of affected organs leads to Body mass index (BMI) abnormality. This study aimed to evaluate the association between BMI and serum ferritin level as a marker for iron overload. Materials and Methods: A cross-sectional study designed and conducted with total number of 740 paediatrics, with mean age about 14.2±8.7 years old and with beta-thalassemia major requiring recurrent blood transfusion. Patient information, including demographics, serum ferritin level and percentage of BMI, was recorded and analysed by SPSS 25.0 and the statistical significant level, considered as 0.05. Results: A total number of 740 paediatrics with beta-thalassemia major disease (mean age about 14.2±8.7 years) were included to study to examine the association between serum ferritin level and their BMI. The total mean serum level of ferritin calculated about 3326 ± 3859 Nanogram/mililitter (ng/ml). Totally, 447 (60.4%) case of them had BMI percentile less than 5%, 274 (37.02%), 16 (2.16%) and 3 (0.4%) had BMI percentile 5%-85%, 85%-95% and more than 95%. There was no relation between gender and serum ferritin levels. The relationship between age and BMI has been positive (P=0.002). Finally, it resulted that there was a negative relationship between the BMI percentile and mean serum ferritin levels in paediatrics with beta-thalassemia major (P=0.031). Conclusion: Frequent Blood transfusion is associated with elevated serum ferritin level in paediatrics with betathalassemia major disease and experiencing lower percentiles of BMI in these patients. [ABSTRACT FROM AUTHOR]