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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., (© The Author(s) 2024. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

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., (© 2023. BioMed Central Ltd., part of Springer Nature.)

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 &lt; .001, p = .003, respectively). There were no statistically significant differences between patients with T2* ≥ 20 ms and patients with T2* &lt; 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* &lt; 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., (© 2022 Wiley Periodicals LLC.)

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., Competing Interests: CONFLICT OF INTEREST The authors declare no conflicts of interest., (© Copyright 2022, Sultan Qaboos University Medical Journal, All Rights Reserved.)

Problem: Adolescents with beta thalassemia major face various physical and psychosocial challenges. Resilience plays a protective role in coping with the stress resulting from this disease., Methods: This descriptive correlational study was carried out on 134 adolescents (age: 11-21 years old) with beta-thalassemia major who were referred at the Thalassemia Centre in southern Iran from October to December 2018 via convenience sampling method. The Jalowiec Coping scale and Connor-Davidson resilience scale were the instruments used in this study. Data analysis was done using Pearson correlation coefficient and linear regression., Findings: Resilience was shown to be correlated with the subscales of confrontive, optimistic, supportant, and evasive coping significantly and positively (p < .001), while in the subscale of emotive coping with resilience, this was not significant. In addition, 38% of variations in the scale of resilience were explained by the five coping subscales., Conclusions: The findings of this study, indicated the role of courageous coping in promoting resilience and defensive coping as a factor that leads to less resilience than optimal level. Hence, understanding the importance and the role of protective factors and risk factors can help healthcare providers in planning some effective interventions to increase resilience among adolescents with thalassemia., (© 2021 Wiley Periodicals LLC.)

Background: Ineffective erythropoiesis (IE) is the most prominent feature of transfusion-dependent beta-thalassemia (TDT), which leads to extramedullary hemopoiesis. The rejection rate in allogeneic hematopoietic stem cell transplantation (HSCT) is high in heavily transfused patients with TDT accompanied by prominent IE. Therefore, a pretransplantation treatment bridging to HSCT is often used to reduce allosensitization and IE. Ruxolitinib is a JAK-1/JAK-2 inhibitor and has showed its efficacy in suppressing IE and the immune system. A previously published study on RUX in adult patients with TDT has revealed that this treatment significantly reduces spleen size and is well tolerated., Procedure: Ten patients (5-14 years old) with TDT and an enlarged spleen were enrolled. The dose of ruxolitinib was adjusted for age: for patients <11 years: 40-100 mg/m 2 total daily dose and for patients >11 years: 20-30 mg/m 2 total daily dose. HSCT was performed in 8 of 10 patients., Results: After the first 3 months of ruxolitinib therapy, spleen volume decreased in 9 of 10 cases by 9.1%-67.5% (M = 35.4%) compared with the initial size (P = 0.003). The adverse events of ruxolitinib (infectious complications, moderate thrombocytopenia, and headache) were successfully managed by reducing the dose. The outcomes of HSCT were favorable in seven of eight cases., Conclusion: Ruxolitinib is promising as a short-term pre-HSCT treatment for pediatric patients with TDT and pronounced IE., (© 2021 Wiley Periodicals LLC.)

Objective/background: The purpose of this study was to evaluate serum cardiac troponin I and serum N-terminal (NT) pro-brain natriuretic peptide (pro-BNP) levels and the utility of tissue Doppler imaging in assessing cardiovascular changes following left ventricular (LV) dysfunction in children with beta-thalassemia major (β-TM). In children with β-TM who depend on regular blood transfusion, cardiac iron toxicity is a common serious complication. The most common cause of death among these patients is congestive heart failure., Methods: This is a cross-sectional study which included 50 patients with β-TM and 50 healthy controls. Tissue Doppler imaging was performed and levels of serum ferritin, cardiac troponin I, and NT pro-BNP were estimated for all included patients., Results: Serum NT pro-BNP and cardiac troponin (cTnI) showed a significant increase in patients with β-TM (p < .001). In patients with β-TM, LV dimensions (LV end systolic diameter) and (LV end diastolic diameter) were large (p < .01); LV mass (p < .01), E wave, and E/A ratio (p < .01) were high (p < .05); and deceleration time was short (p < .05). Besides, transmitral ratio (E/E m ) (p < .05) and tricuspid valve velocity were higher (p < .05), and early diastolic velocity (E m ) (p < .05) and systolic wave velocity (S m ) were lower in patients with β-TM (p < .05). A significant positive correlation was detected between the pro-BNP and E wave (r = 0.558, p < .001), E/A ratio (r = 0.403, p < .001), E/E m ratio (r = 0.576, p < .001), and ferritin (r = 0.545, p < .001)., Conclusion: Pulsed wave tissue Doppler imaging and NT pro-BNP had a significant role in the estimation of ventricular dysfunction in children with β-TM., Competing Interests: Declaration of Competing Interest The authors declared that there is no conflict of interest., (Copyright © 2020 King Faisal Specialist Hospital & Research Centre. Published by Elsevier Ltd. All rights reserved.)

Objective: Cardiovascular iron load is the leading cause of morbidity and mortality in beta-thalassemia major (β-TM). However, many patients remain asymptomatic until the late stage. In this cross-sectional study, we investigated the role of three-dimensional (3D) echocardiography and endothelial dysfunction parameters in asymptomatic β-TM patients, and the relationship between these parameters and cardiac magnetic resonance imaging (MRI) T2* value., Methods: A total of 51 asymptomatic β-TM patients receiving regular blood transfusions were divided into two groups based on cardiac MRI-T2* values (MRI-T2*<20 ms and ≥20 ms), which MRI-T2*<20 ms determines myocardial iron load and evaluated by two-dimensional (2D) and 3D-echocardiography including endothelial dysfunction parameters. The relationships between ferritin levels, 2D and 3D-echocardiography measurements, endothelial dysfunction parameters, and cardiac MRI-T2* values were investigated., Results: All left ventricle ejection fraction (LVEF) obtained by 2D-echocardiography were normal (≥50%). LVEF-3D (53.25 ± 2.33 vs. 58.81 + 1.02), SDI12 (6.53 ± 0.56 vs. 2.85 + 0.48), and SDI16 (7.65 ± 0.75 vs. 3.26 + 0.49) were significantly different and negatively correlated between groups with MRI-T2*<20 ms and ≥20 ms, respectively. Flow-mediated dilatation (FMD) (6.08% ± 0.34% vs. 14.46% ± 1.12), aortic strain (7.79% ± 2.19% vs. 12.76% ± 4.19), ferritin levels were significantly different and negatively correlated between groups with MRI-T2*<20 ms and ≥20 ms, respectively. Higher ferritin, SDI12/16 were significant independent predictors of MR-T2* < 20 ms. SDI16 > 5.5, SDI12 > 4.3 predicted MRI-T2*<20ms with a sensitivity of 92%, specificity of 81% (AUC 0.85, P < .001), and sensitivity of 92%, specificity of 78% (AUC 0.83, P < .001), respectively., Conclusion: SDI12/16 calculated by 3D-echocardiography may be a promising predictors of cardiovascular iron load and, decreased LVEF-3D, FMD, and aortic strain might be good indicators of subclinical cardiovascular involvement of β-TM., (© 2021 Wiley Periodicals LLC.)

Background: Cardiac MRI plays a critical role in the management of thalassemic patients. No accurate biventricular reference values are available., Purpose: To establish the ranges for normal left ventricular (LV) and right ventricular (RV) volumes and ejection fraction (EF) and LV mass normalized to body surface area (BSA), age, and gender in a large cohort of well-treated beta-thalassemia major (β-TM) patients without heart damage using a multiparametric MRI., Study Type: Retrospective/cohort study., Population: In all, 251 β-TM patients with no known risk factors or cardiac disease, normal electrocardiogram, no macroscopic myocardial fibrosis, and all cardiac segments with T 2 * ≥20 msec, and 246 healthy subjects., Field Strength/sequence: 1.5T/cine steady-state free precession (SSFP), gradient-echo T 2 *, late gadolinium enhancement (LGE) images., Assessment: Biventricular end-diastolic volume, end-systolic volume, stroke volume, and LV mass were normalized to BSA (EDVI, ESVI, SVI)., Statistical Tests: Comparisons between the two groups was performed with two-samples t-test or Wilcoxon's signed rank test. For more than two groups, one-way analysis of variance (ANOVA) or a Kruskal-Wallis test were applied., Results: Compared to controls, males with β-TM showed significantlt higher LVEDVI in all the age groups, while for the other volumes the difference was significant only within one or more age groups. In females the volumes were comparable between β-TM patients and healthy subjects in all the age groups. In the male β-TM population we found a significant effect of age on LVEDVI (P = 0.017), LVESVI (P = 0.001), RVESVI (P = 0.029), and RVEF (P = 0.031), while for females none of the biventricular parameters were significantly different among the age groups (LVEDVI: P = 0.614; LVESVI: P = 0.449; LVSVI: P = 0.186; LV mass index: P = 0.071; LVEF: P = 0.059; RVEDVI: P = 0.374; RVESVI: P = 0.180; RVSVI: P = 0.206; RVEF: P = 0.057). In β-TM patients all biventricular volume indexes as well as the LV mass index were significantly larger in males than in females (P < 0.0001 in all cases). The LV and the RV EF were comparable between the sexes (P = 0.568 and P = 0.268, respectively)., Data Conclusion: Appropriate "normal" reference ranges normalized to BSA, sex, and age are recommended to avoid misdiagnosis of cardiomyopathy in β-TM patients., Level of Evidence: 4 TECHNICAL EFFICACY STAGE: 2., (© 2020 International Society for Magnetic Resonance in Medicine.)

β-thalassemia major is an inherited hemoglobinopathy that requires lifelong red blood cell transfusions and iron chelation therapy to prevent complications due to iron overload. Traditionally, β-thalassemia has been more common in certain regions of the world such as the Mediterranean, Middle East, and Southeast Asia. However, the prevalence of β-thalassemia is increasing in other regions, including Northern Europe and North America, primarily due to migration. This review summarizes the available data on the changing incidence and prevalence of β-thalassemia as well as factors influencing disease frequency. The data suggest that the epidemiology of β-thalassemia is changing: Migration has increased the prevalence of the disease in regions traditionally believed to have a low prevalence, while, at the same time, prevention and screening programs in endemic regions have reduced the number of affected individuals. Various approaches to prevention and screening have been used. Region-specific prevention and treatment programs, customized to align with local healthcare resources and cultural values, have been effective in identifying patients and carriers and providing information and care. Significant challenges remain in universally implementing these programs., (© 2020 The Authors. European Journal of Haematology published by John Wiley & Sons Ltd.)

Beta-thalassemia major is a chronic disorder characterised by severe anemia. This patient with beta-thalassemia major is the first magnetic resonance (MR) angiographic case for symmetric mirror aneurysms of the extracranial internal carotid arteries. For diagnosis of vascular complications requires angiographic procedures such as catheter angiography, computed tomography angiography, MR angiography, or Doppler ultrasonography. Time-of-flight MR angiography is a non-invasive useful technique in diagnosis of the aneurysmatic patients.

Background: Management of beta-thalassemia major (TM) requires life-long hemotransfusions leading to iron overload. Iron elimination is enhanced by the use of modern chelators., Aim: To assess the effect of modern chelation therapy by dynamics of serum ferritin concentration and liver MRI T2*., Patients and Methods: Forty-six patients with TM (male to female ratio =1:1, mean age 33.2±10.9 years) were prospectively studied between 2011 and 2014. Twenty-one patients (45.7%) were treated with deferasirox, 17 (37%) - with deferiprone, and 8 (17.3%) - with deferiprone in combination with deferoxamine. Ferritin was measured by ELISA. MRI T2* was assessed by Siemens Magnetom Avanto 1.5T. The patients were allocated into 3 groups based on their initial ferritin level and liver MRI T2*. Statistical analysis was performed using SPSS v. 18 for Windows. Data were analysed by descriptive analysis, analysis of variance and correlative analysis, means were compared using t-test and one-way ANOVA., Results: In 2011, 9 (19.5%) patients had normal liver MRI T2*; in 2014 they were 17 (37%). The patients with mild grade liver siderosis were 12 (26%) in 2011, and in 2014 they were 14 (30.4%). In 2011, the patients with moderate liver siderosis were 14 (30.4%), and in 2014 - 12 (26.0%). Eleven patients (23.9%) had severe liver siderosis in 2011 and only two patients (4.0%) were diagnosed with the condition in 2014., Conclusion: A reduction of iron overload was found in all studied groups. This positive effect is attributed to the use of modern chelators and the ease of access to accurate monitoring., (This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

This study aimed to assess left (LA) and right atrial (RA) function in patients with beta-thalassaemia major. Thirty-eight patients (19 males) aged 34.5 ± 10.7 years and 43 (18 males) controls aged 30.3 ± 12.6 years (p = 0.12) were studied. The maximum RA and LA areas were measured using two-dimensional planimetry, while atrial and ventricular strain and strain rates were quantified using speckle-tracking echocardiography. Compared with controls, patients had significantly reduced LA and RA peak positive strain and total strain, and LA strain rate during ventricular systole and at atrial contraction (all p < 0.05). The LA and RA strain parameters were significantly associated (all p < 0.05). The maximum LA (10.2 ± 1.6 cm 2 /m 2 vs. 8.6 ± 1.3 cm 2 /m 2 , p < 0.001) and RA (9.2 ± 1.2 cm 2 /m 2 vs. 7.5 ± 1.3 cm 2 /m 2 , p < 0.001) areas were significantly greater in patients than controls. The LV and RV strain and early strain rates were similar between patients and controls (all p > 0.05). Four patients with significant myocardial iron overload had larger LA area (p < 0.001) than those without. Functional and structural remodeling of both the right and left atria occurs in patients with beta-thalassaemia major, even in the absence of ventricular diastolic dysfunction.

Background: Regular blood transfusion therapy still remains the cornerstone in the management of β-thalassemia. Although recommendations are clear for patients with β-thalassemia major, uniform transfusion guidelines are lacking for patients with hemoglobin E β-thalassemia. In this study, we aim to describe the adequacy, trends, and determinants of blood transfusion therapy in a large cohort of pediatric patients with β-thalassemia major and hemoglobin E β-thalassemia., Methods/procedure: This cross-sectional study was performed among all regularly transfused patents with β-thalassemia aged 2 to 18 years attending three large thalassemia centers in Sri Lanka. Data were collected using an interviewer-administered questionnaire, perusal of clinical records, and physical examination of patients by trained doctors., Results: A total of 328 patients (male 47%) were recruited; 83% had β-thalassemia major, whereas 16% had hemoglobin E β-thalassemia. Sixty-one percent of patients had low pretransfusion hemoglobin levels (< 9.0 g/dL) despite receiving high transfusion volumes (> 200 mL/kg/year) by a majority (56%). Median pretransfusion hemoglobin was significantly lower in patients with hemoglobin E β-thalassemia compared with β-thalassemia major (P < 0.001); however, there was no difference in requirement for high transfusion volumes over 200 mL/kg/year in both groups (P = 0.14). Hepatomegaly and splenomegaly were more common in hemoglobin E β-thalassemia and were associated with lower pretransfusion hemoglobin. Transfusion requirements were higher among patients with hepatitis C and in those who are underweight., Conclusions: Over 60% of regularly transfused patients with β-thalassemia have low pretransfusion hemoglobin levels despite receiving large transfusion volumes. Patients with hemoglobin E β-thalassemia are undertransfused and specific recommendations should be developed to guide transfusions in these patients., (© 2019 Wiley Periodicals, Inc.)

In Tunisia, beta-thalassemia major is a real public health problem. A study carried out of patients affected shows that for them, this chronic haemoglobinopathy is a disability hampering their physical activities, their social integration, their academic results and their emotional life., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Purpose: The main purpose of this meta-analysis was to evaluate the impact of beta-thalassemia major (BTM) on the health-related quality of life as assessed by the medical outcomes short-form-36 questionnaire (SF-36)., Methods: A systematic literature search was performed on Cochrane library, Web of Science, Scopus, Science Direct, ProQues, Medline/PubMed, Scholar Google until March 17, 2017 to obtain eligible studies. A fixed effect model was applied to summarize the scores of each domain. The radar chart was used to compare the scores of BTM patients with other health conditions. Spearman's correlation analysis and meta-regression were used to explore the related factors., Results: 26 studies were included in this study, which were all reliable to summarize the scores of the SF36. Pooled mean scores of the physical health domains ranged from 52.74 to 74.5, with the GH and PF domains being the lowest and the highest, respectively. Further, the pooled mean scores of the mental health domains varied between 59.6 and 71.11, with the (MH-VT) and SF domains being the maximum and the minimum, respectively. Patients with BTM had a substantially compromised HRQoL in comparison with the general population., Conclusion: BTM could adversely affect the HRQoL of patients. Measuring HRQoL should be considered as an essential part of the overall assessment of health status of BTM patients, which would provide valuable clues for improving the management of disease and making decisions on the treatment.

Background: Regarding the importance of oral and dental health in patients with hemoglobinopathies and also due to the different results of different studies in this background, in patients with beta thalassemia (BTM) and sickle cell disease (SCD), this study aimed to evaluate and compare the oral and dental manifestations of patients with BTM and SCD., Material and Methods: In this cross-sectional study during the years 2014-2017, a total of 175 patients (with documented BTM or SCD attending to Tehran, Mashhad, Isfahan, and Tabriz cities central hospitals) were randomly recruited. Required information was gathered through a thorough physical examination of the oral cavity in a private office and a face-to-face interview by an orthodontist and two dentists. Data were analyzed using SPSS version 22.0., Results: In general, 120 diagnosed patients with BTM (88 males and 32 females) and 55 patients with SCD (25 males and 30 females) attending to Iran largest cities, central hospitals were randomly recruited. We found a significantly higher prevalence (p < .05) of some oral manifestations among the BTM patients (Gingival Index = 2.18 ± 1.300, 1.64 ± 0.963; Decayed teeth = 8.31 ± 3.330, 2.33 ± 1.221; Missing teeth = 3.51 ± 2.016, 1.19 ± 0.820; DMFT = 13.92 ± 7.001, 2.63 ± 1.301) than the apparently healthy people., Conclusion: Finally, the study gives an insight into the various oral and dento-maxillofacial manifestations of SCD and BTM and also reveals an association that exists between the oral and dento-maxillofacial manifestations and systemic health in these patients, thus stressing the importance of the concise and periodic examination of these individuals to perform appropriate preventive dental and periodontal care, and the facilitation of the management of the disease.

Objectives: Beta-thalassemia major is associated with the increased risk of cardiovascular morbidity and mortality. Asymmetric dimethylarginine (ADMA) has been implicated in the pathogenesis of endothelial dysfunction and atherosclerosis. In this study, we aimed to investigate circulating ADMA concentrations in children with beta-thalassemia major., Methods: Thirty-one beta-thalassemia major children aged between 4 and 16 year old and age, gender-matched 36 healthy controls were enrolled in the study. Plasma ADMA was measured along with the soluble vascular cell adhesion molecule-1 (sVCAM-1), soluble intercellular adhesion molecule-1 (sICAM-1), P-selectin, and Pentraxin-3., Results: Age, gender and body mass index were similar in two groups. Plasma ADMA, sVCAM-1, and sICAM-1 measurements were significantly higher in beta-thalassemia major patients than the control group (p < 0.004 for ICAM-1, p < 0.001 for other parameters). There were positive significant correlations between ADMA, sVCAM-1 and sICAM-1 (r = 0.437, p < 0.001; r = 0.544, p < 0.001; r = 0.405, p < 0.001, respectively) in the whole group., Discussion: The findings of the current study show us that increased plasma ADMA levels in children with beta-thalassemia major may be an early marker for endothelial dysfunction and may play a role in the development of premature atherosclerosis in beta-thalassemia major patients.

Background: Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment for thalassemia majorTM. Graft rejection (GR) and graft-versus-host disease (GVHD) are the primary obstacles to a successful outcome., Methods: We conducted a retrospective study of HSCT in 29 children (median age at transplantation: 6 years) with Beta-thalassemia (β-TM) after the combined infusion of granulocyte colony-stimulating factor-primed bone marrow (G-BM) and cord blood (CB) from the human leukocyte antigen (HLA)-identical sibling donors. We also compared the outcomes of the co-transplanted children with those of children with β-TM who received G-BM alone from an HLA-identical sibling donor (n = 26)., Results: Compared to the G-BM transplant (G-BMT) recipients, those who received a co-transplant had a lower incidence of grade ≥II acute (17.24 vs. 30.7%, p = 0.047) and limited chronic (0 vs.15.4%, p = 0.022) GVHD as well as a lower incidence of GR (0 vs. 7.7%, p = 0.132). Neutrophil recovery time was faster in the co-transplant group (18.5 vs. 21 days, p = 0.04). All the patients were monitored until December 31, 2016; the median follow-up time was 74 months, and the 5-year thalassemia-free survival rate was 89.7% in the co-transplant group and 84.6% in the G-BMT-alone group (p = 0.590)., Conclusions: A combined CB and G-BM graft from an HLA-identical sibling donor is an effective treatment option for TM in children, with less acute and chronic GVHD., (© 2018 S. Karger AG, Basel.)

The aim of our study was to evaluate the Greek version of the transfusion-dependent quality of life (TranQol) questionnaire and report our experience of using this novel disease-specific quality of life (QoL) measure in patients with transfusion-dependent thalassemia (TDT). The TranQol and SF-36v2 questionnaires were administered to 94 adult TDT patients with a mean age of 32.1 years (SD = 7, range = 19-58), recruited from the Adult Thalassemia Unit of Hippokration General Hospital of Thessaloniki, Greece. The TranQol was evaluated in terms of construct validity, reliability, and responsiveness. There was a moderately strong correlation between the TranQol summary and both the SF-36v2 physical and mental component summaries (r = 0.4, p < 0.001 and r = 0.5, p < 0.001, respectively). There was also a moderately strong correlation between the physical health scale of TranQol and the relevant SF-36v2 scales, including physical functioning (r = 0.4, p < 0.001), role-physical (r = 0.6, p < 0.001), and bodily pain (r = 0.5, p < 0.001). TranQol also exhibited good internal consistency (Cronbach's alpha coefficient = 0.9) and excellent test-retest reliability (intra-class correlation coefficient = 0.9). The subgroup of patients that reported a better QoL 1 week after transfusion also demonstrated a significant improvement in their TranQol score. These are the first data regarding the administration of the Greek TranQol in a single thalassemia unit. The psychometric properties of the Greek TranQol confirmed it is a valid, reliable, and responsive to change questionnaire, which can be incorporated into future clinical trials.

In the present study, an embedded design was applied in order to conduct a one-year cross-sectional audit of chorionic villus sampling (CVS) and foetal outcomes affected by β-thalassemia major (β-TM) in a prenatal diagnosis (PND) setting. In addition, we explored the decisions regarding pregnancy termination among women whose pregnancy (or child) was affected by β-TM. In the quantitative phase, the available data in the clients' medical records were analysed, while the qualitative phase was performed using a grounded theory method. Interviews were performed with nine pregnant women who had decided against pregnancy termination despite positive CVS results, 11 mothers who had admitted their child to the thalassemia ward for blood transfusion, and 19 mothers who had received positive CVS results and had decided against pregnancy termination in the preceding year. Over one year, 18.6 % of women decided against pregnancy termination despite positive CVS results. Two main themes related to decisions against pregnancy termination emerged from the qualitative data: 1) Cognitive factors (questioning the reliability of the tests or doubts about the accuracy of the results, understanding disease recurrence, curability, perceived severity of the disease, and lack of "real-life experiences"); and 2) Sociocultural responsiveness (family opposition, responsibility before God, and self-responsiveness). All of the mentioned factors could intensify fear of abortion in couples due to possible regret, and encourage a decision against pregnancy termination.

Objective: The aim of the study was to investigate the role of osteoprotegerin (OPG)/RANK/RANKL variants in left ventricular hypertrophy (LVH) and diastolic dysfunction in thalassemia major patients MATERIALS AND METHOD: One hundred and five beta-thalassemia patients who were older than 10 years of age were enrolled for the study. Two-dimensional and M-mode echocardiography analysis was done in all patients. Genotyping for OPG [rs2073617 (950 T>C), rs2073618 (1181G>C)], RANK [(rs1805034(+34694 C>T), rs12458117 (+34901 G>A) and rs75404003 (+35966insdelC)], and RANKL (rs2277438, rs9594782) variants was done using the PCR-RFLP method. Serum OPG levels were estimated by ELISA., Results: Mean age of patients was 16.36 ± 5.08 years. LVH and diastolic dysfunction was present in 33 (31.4%) and 24 (22.8%) patients, respectively. Thalassemia patients having minor allele of OPG rs2073618, RANK rs75404003 and RANKL rs9594782 SNPs were at high risk for LVH as suggested by high odds ratio of 2.470, 3.783, and 2.148, respectively; however, none of the SNPs tested were statistically significantly associated after applying Bonferroni corrections for multiple testing adjustment. No significant association of any SNP with diastolic dysfunction was observed. Serum OPG levels were found significantly higher in thalassemia patients with diastolic dysfunction (P  =  0.006)., Conclusion: OPG rs2073618, RANK rs75404003, and RANKL rs9594782 SNPs may predispose LVH in thalassemia patients. Patients with diastolic dysfunction showed increased levels of serum OPG., (© 2017 John Wiley & Sons Ltd/University College London.)

Background: Paroxysmal atrial tachyarrhythmias frequently occur in beta-thalassemia major (β-TM) patients. The aim of the current study was to evaluate the atrial electromechanical delay (AEMD) in a large β-TM population with normal cardiac function and its relationship to atrial fibrillation (AF) onset., Methods: Eighty β-TM patients (44 men, 36 women), with a mean age of 36.2 ± 11.1 years, and 80 healthy subjects used as controls, matched for age and gender, were studied for the occurrence of AF during a 5-year follow-up, through 30-day external loop recorder (ELR) monitoring performed every 6 months. Intra-AEMD and inter-AEMD of both atria were measured through tissue Doppler echocardiography. P-wave dispersion (PD) was carefully measured using 12-lead electrocardiogram (ECG)., Results: Compared to the healthy control group, the β-TM patients showed a statistically significant increase in inter-AEMD, intra-left AEMD, maximum P-wave duration, and PD. Dividing the β-TM group into two subgroups (patients with or without AF), the inter-AEMD, intra-left AEMD, maximum P-wave duration, and PD were significantly higher in the subgroup with AF compared to the subgroup without AF. There were significant good correlations of intra-left AEMD and inter-AEMD with PD. A cut-off value of 40.1 ms for intra-left AEMD had a sensitivity of 76.2% and a specificity of 97.5% in identifying β-TM patients with AF risk. A cut-off value of 44.8 ms for inter-AEMD had a sensitivity of 81.2% and a specificity of 98.7% in identifying this category of patients., Conclusions: Our results showed that the echocardiographic atrial electromechanical delay indices (intra-left and inter-AEMD) and the PD were significantly increased in β-TM subjects with normal cardiac function. PD and AEMD represent non-invasive, inexpensive, useful, and simple parameters to assess the AF risk in β-TM patients.

Background: Major Thalassemia is an autosomal recessive disease with complications, mortality and serious pathology. Today, the life expectancy of patients with major thalassemia has increased along with therapeutic advances. Therefore, they need lifelong care, and caring for them would incur many costs. Being aware of the patients' costs can be effective for controlling and managing the costs and providing efficient treatments for the care of patients. Hence, this study was conducted to estimate the economic burden of the patients with major thalassemia., Methods: Totally, 198 patients with major thalassemia were randomly selected from among the patients with major thalassemia in Tehran, Iran in 2015. The economic burden of the patients was estimated from a social perspective and through a bottom-up, prevalence-based approach., Results: The average annual cost per patient was estimated $ 8321.8 regardless of the cost of lost welfare. Of this amount, $ 7286.8 was related to direct medical costs, $ 461.4 to direct non-medical costs, and $ 573.5 to indirect costs. In addition, the annual cost per patient was estimated $ 1360.5 due to the distress caused by the disease CONCLUSIONS: Considering the high costs of the treatment of patients with major thalassemia, adopting new policies to reduce the costs that patients have to pay seems necessary. In addition, making new decisions regarding thalassemia screening, even with higher costs than the usual screening costs, can be useful since the costs of treatment are high.

Objectives: The occurrence of cardiac iron deposition is one of the late effect of iron over load which causes cardiovascular disease (CVD) in patients who are affected by beta-thalassemia major. Evaluation of some cardiovascular risk factors plays a crucial role in prediction and prevention of CVD., Subjects and Methods: This study consisted of 70 young adult subjects with beta-thalassemia major (beta-TM) (aged <30 years) and 71 age- and sex-matched healthy subjects as control group in the range of 20-30 years. Hematological and biochemical laboratory parameters including apolipoprotein (Apo)A1 and ApoB, oxidative stress biomarker pro-oxidant-antioxidant balance (PAB), homocysteine, serum high-sensitivity C-reactive protein (hs-CRP), and lipid profile were evaluated., Results: ApoA1, ApoB, lipid profiles, and homocysteine were significantly decreased in patients group (P < 0.001); however, very low-density lipoprotein and also mean corpuscular hemoglobin concentration (P > 0.05) were different. Some elements included ferritin (P < 0.001), PAB (P < 0.001), and ApoB/apoA1 ratio (P < 0.05) statistically increased in patients, whereas hs-CRP (P > 0.05) was not significantly different in study groups. Exception of high-density lipoprotein (P > 0.05), other lipid profiles, and apoB had a negative meaningful correlation with PAB (P < 0.05). Likewise, apoA1, apoB, apoB/A1 ratio with apoB and homocysteine showed a strong correlation (P < 0.05). We did not find a slight correlation between apoB/A1 ratio in the company of oxidative stress marker PAB (r = -0.366; P = 0.086). We found a statistical correlation between apoB/A1 and homocysteine (P < 0.05)., Discussion: Higher level of some risk factors like PAB values, apoB/A1 ratio concentration, and lipid profiles is able to involve in the prognostic pathological consequences in patients with beta-thalassemia major. Even so, they contribute toward the gradual development of CVD.

Patients with beta (β)-thalassemia (β-TM: β-thalassemia major, β-TI: β-thalassemia intermedia) have a variety of complications that may affect all organs, including the eye. Ocular abnormalities include retinal pigment epithelial degeneration, angioid streaks, venous tortuosity, night blindness, visual field defects, decreased visual acuity, color vision abnormalities, and acute visual loss. Patients with β-thalassemia major are transfusion dependent and require iron chelation therapy to survive. Retinal degeneration may result from either retinal iron accumulation from transfusion-induced iron overload or retinal toxicity induced by iron chelation therapy. Some who were never treated with iron chelation therapy exhibited retinopathy, and others receiving iron chelation therapy had chelator-induced retinopathy. We will focus on retinal abnormalities present in individuals with β-thalassemia major viewed in light of new findings on the mechanisms and manifestations of retinal iron toxicity., (Copyright © 2016 Elsevier Inc. All rights reserved.)

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]

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]

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 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]

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: 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]

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]

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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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]

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]

Beta-thalassemia major is characterized by a genetic deficiency in synthesis of beta-globin chains, resulting in reduced levels of functional hemoglobin. It is characterized by anemia, hepatosplenomegaly, and iron overload due to repeated blood transfusion. Hematopoietic stem cell transplantation is currently the only known curative treatment. We present a case of a 10-year-old girl with beta-thalassemia major who was successfully cured with allogeneic booster umbilical cord blood (UCB) transplantation with outcome data after 3 years of transplantation, in India. Postdiagnosis, she was on regular once-a-month blood transfusion until the age of 10 years, with no improvement. No serious adverse events occurred in the patient post-UCB transplantation. Chronic graft versus host disease was limited and was managed by medicines. Signs of primary graft rejection were also not seen. [ABSTRACT FROM AUTHOR]

Further studies are needed on this unique population to better manage them and increase their chances of normal pregnancy and fewer complications and more favorable outcomes. [ABSTRACT FROM AUTHOR]

This study was conducted to evaluate the cardiac perfusion and function of patients with beta-thalassemia major (TM) using99mTc-MIBI cardiac gated single-photon-emission computed tomography (SPECT) and to compare the obtained indices with echocardiographic and hematological parameters. Patients with TM who were referred for regular blood transfusion and periodic checkup were included in this study. A questionnaire containing demographic and medical data was provided for all patients by an expert pediatrician. All of the patients were on Desferal chelation therapy and none of them had clinical signs of heart failure. Myocardial gated perfusion SPECT, echocardiography, and complete blood tests were performed for each patient. In total, 24 patients including 14 men (58.3%) and 10 women (41.7%) aged 15–36 years with a mean age of 24.3 ± 6.5 years' old were enrolled in this study. Myocardial perfusion scan (MPS) was normal in all patients. The mean value of the measured left ventricular ejection fraction (LVEF) was 58.88 ± 13.45%. There was no significant association between measured LVEF on scan and echocardiography (P > 0.05). In terms of hematological results, there was a significant association between the hemoglobin and ferritin level and the amount of blood transfusion (P = 0.02 and P= 0.00, respectively). According to the results of myocardial perfusion imaging (MPI), cardiac perfusion and LVEF were within normal limits in all asymptomatic patients. In the absence of any perfusion abnormality, the use of MPI in patients with asymptomatic beta-TM is not recommended for diagnosing myocardial ischemia. [ABSTRACT FROM AUTHOR]

Healthy lifestyle behaviors are important for thalassemic children and adolescents to prevent disease-related complications and improve quality of life. This study aimed to evaluate the effect of lifestyle modification module on adherence of children and adolescent suffering from beta-thalassemia major. Design: A quasi-experimental design was utilized to conduct the study. Sampling: A purposive sample comprised of 80 children & adolescents with beta thalassemia major. Tools: I-Interviewing questionnaire, II-Children adherence tools: It was used to assess children and adolescents' adherence with: (a) Medication (Morisky), (b) Therapeutic regimen (diet, physical exercise, and follow up). (c) Levels of perceived stress, (d) Sleep quality domains and developed intervention lifestyle modifications module. Results: This study revealed that more than three quarter had satisfactory knowledge about β-TM post lifestyle modification module implementation and the majority of children and adolescents with β-TM were adherent to taking medicines yesterday post module implementation. Conclusion: There were significant improvements of knowledge and adherence of the studied children and adolescents with β-TM to therapeutic regimen post the lifestyle modification module application and there were positive correlations between all variables of the studied children and adolescents with β-TM. [ABSTRACT FROM AUTHOR]