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Objective: To analyze the genetic test results of 378 patients suspected of thalassemia. Methods: 378 suspected thalassemia patients in Shaoxing People's Hospital from 2014 to 2020 were selected and venous blood was tested using Gap-PCR and PCR-reversed dot blottin. The distribution of genotypes and other information of gene-positive patients was observed. Results: Thalassemia genes were detected in 222 cases, with an overall detection rate of 58.7%, of which 41.4% were α deletion type, 1.35% were α dot, 52.7% were α thalassemia, and 4.5% were αβ complex type. Among the 86 people with provincial household registration, the α-thalassemia gene accounted for 65.1% and the β-thalassemia gene accounted for 25.6%. Follow-up found that Shaoxing nationality accounted for 53.1% of positive patients, of which β-thalassemia gene accounted for 72.9% and α-thalassemia gene accounted for 25.4%; other cities in the province accounted for 8.1% of the total. Other provinces and cities accounted for 38.7%, most of which were from Guangxi and Guizhou. Among all positive patients, the most common α-thalassemia genotypes were --sea / αα, --α / αα,--α 3.7 4.2 / αα , --α3.7 / --sea. The most common mutations in β-thalassemia were IVS-II-654, CD41-42, CD17 and CD14-15. Conclusion: The thalassemia gene carrier status was sporadically distributed outside the traditional thalassemia high prevalence areas. The local population in Shaoxing has a high detection rate of thalassemia genes, and the genetic composition is different from the traditional high prevalence area of thalassemia in the south. [ABSTRACT FROM AUTHOR]

Background: Thalassemia is the most prevalent hereditary anaemia worldwide. Severe forms of thalassemia can lead to reduced life expectancy due to disease-related complications. Objectives: To investigate the survival of thalassemia patients across varying disease severity, causes of death and related clinical factors. Patients and methods: We conducted a retrospective review of thalassemia patients who received medical care at Chiang Mai University Hospital. The analysis focused on survival outcomes, and potential associations between clinical factors and patient survival. Results: A total of 789 patients were included in our study cohort. Among them, 38.1% had Hb H disease, 35.4% had Hb E/beta-thalassemia and 26.5% had beta-thalassemia major. Half of the patients (50.1%) required regular transfusions. Sixty-five patients (8.2%) had deceased. The predominant causes of mortality were infection-related (36.9%) and cardiac complications (27.7%). Transfusion-dependent thalassemia (TDT) (adjusted HR 3.68, 95% CI 1.39-9.72, p = 0.008) and a mean serum ferritin level ≥3000 ng/mL (adjusted HR 4.18, 95% CI 2.20-7.92, p < 0.001) were independently associated with poorer survival. Conclusions: Our study highlights the primary contributors to mortality in patients with thalassemia as infection-related issues and cardiac complications. It also underscores the significant impact of TDT and elevated serum ferritin levels on the survival of thalassemia patients. [ABSTRACT FROM AUTHOR]

Background: The effective management of iron overload in transfusion-dependent thalassemia (TDT) requires adherence to iron chelation therapy (ICT). However, adherence rates among pediatric thalassemia patients remain suboptimal. This study aimed to evaluate adherence levels and identify sociodemographic and clinical factors impacting ICT adherence in pediatric TDT patients from Sarbaz-Rask, Iran. Methods: This cross-sectional study assessed 58 pediatric TDT patients aged 2–18 years at a thalassemia clinic from April 2021 to March 2022. Adherence was evaluated using the medication possession ratio. Logistic regression and correlation analyses identified predictors of adherence and treatment efficacy based on serum ferritin levels. Results: Adherence was satisfactory in 58.6% of patients and associated with younger maternal age (93.8% for 18–30 years, p = 0.008) and urban residency (p = 0.02). Logistic regression identified urban residency (OR = 20.265, p = 0.073) and a maternal age of 18–30 years (OR = 39.236, p = 0.005) as key predictors of adherence. Adherence was not significantly influenced by having a sibling with thalassemia or the maternal educational level. Treatment efficacy was observed in 27.6% of patients. Maternal age impacted adherence in poorly controlled patients (p = 0.007). Urban residents showed higher adherence rates, particularly with poor control (p = 0.017). Conclusions: Younger maternal age and urban residency emerged as positive predictors of adherence and treatment efficacy in pediatric thalassemia patients from Sarbaz-Rask. Targeted interventions supporting rural families and those with older maternal caregivers may improve adherence and outcomes in this population.

Fuzhen Yuan,1 Zhenhua Huang,1,2 Dingye Yao,1,2 Junsheng Sun1,2 1Department of General Practice, Longgang District Central Hospital of Shenzhen, Shenzhen, 5181116, People’s Republic of China; 2Shenzhen Clinical College of Medicine, Guangzhou University of Chinese Medicine, Shenzhen, 5181116, People’s Republic of ChinaCorrespondence: Junsheng Sun, Department of General Practice, Longgang District Central Hospital of Shenzhen, No. 6082, Longgang Avenue, Longgang District, Shenzhen, Guangdong Province, 518100, People’s Republic of China, Tel +86-15338897372, Email junshengsun@126.comAbstract: Vitamin B12 is essential for various bodily functions, and its deficiency may cause hematological manifestations. We report a case of a previously healthy 65-year-old female who was admitted to our hospital with reduced sense of taste and painful tongue. The serum level of vitamin B12 was decreased. However, her complete blood count did not show any evidence of macrocytosis, instead, her mean corpuscular volume was low. Gene sequencing indicated an β-thalassemia minor and that probably masked the megaloblastic features of vitamin B12 deficiency.Keywords: pernicious anemia, autoimmune gastritis, thalassemia, glossitis

Jia Yi Tan,1 Yong Hao Yeo,2 Kok Hoe Chan,3 Hamid S Shaaban,4 Gunwant Guron4 1Department of Internal Medicine, New York Medical College at Saint Michael’s Medical Center, Newark, NJ, USA; 2Department of Internal Medicine/Pediatrics, Corewell Health, Royal Oak, MI, USA; 3Division of Hematology/Oncology, Department of Internal Medicine, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA; 4Division of Hematology/Oncology, Department of Internal Medicine, New York Medical College at Saint Michael’s Medical Center, Newark, NJ, USA Correspondence: Kok Hoe Chan, Division of Hematology/Oncology, the University of Texas Health Science Center at Houston, 7000 Fannin St, Houston, TX, 77030, Email kok.hoe.chan@uth.tmc.eduPurpose: Our study aims to describe the mortality trends and disparities among individuals with thalassemia in the United States (US).Patients and Methods: We used CDC WONDER database to calculate the age-adjusted mortality rates (AAMRs) per 1,000,000 individuals and used the Joinpoint Regression Program to measure the average annual percent change (AAPC). Subgroup evaluations were performed by sex, age, race, census region, and urbanization level.Results: From 1999 to 2020, there were 2797 deaths relatd to thalassemia in the US. The AAMR of thalassemia-related death showed a decreasing trend from 0.50 (95% CI, 0.41– 0.58) in 1999 to 0.48 (95% CI, 0.41– 0.55) in 2020 with the AAPC of − 1.42 (95% CI, − 2.42, − 0.42). Asians have the highest AAMR (1.34 [95% CI, 1.20– 1.47]), followed by non-Hispanic Blacks (0.65 [95% CI, 0.59– 0.71]), non-Hispanic Whites (0.32 [95% CI, 0.30– 0.33]), and Hispanics (0.11 [95% CI, 0.08– 0.14]). Cardiovascular disease remains the leading cause of death among individuals with thalassemia. The urban population has a higher AAMR than the rural population (0.43 [95% CI, 0.41– 0.45] vs 0.29 [95% CI, 0.26– 0.32]).Conclusion: Our study calls for targeted interventions to address the racial and geographic disparities existed among individuals of thalassemia in the US.Keywords: thalassemia, beta-thalassemia, alpha-thalassemia, epidemiology, mortality

Aims: The importance of screening for hemoglobinopathies is well-documented in India. However, information on the distribution of hemoglobinopathies in Karnataka is lacking. The present study focuses on determining the spectrum of hemoglobinopathies for various districts of Karnataka. Materials and Methods and Results: A retrospective analysis of samples registered for hemoglobinopathies for a period of 5 years (2017–2021) was carried out. A total of 17066 records registered only from the Karnataka region, were anonymized and retrieved. The data included gender, age, district, and results of the tests. The results were based on complete blood count, peripheral smear, and capillary electrophoresis (CE) pattern. The data were revalidated by pathologists, and the unambiguous data were analyzed for the study. One-fourth of the records (25%) showed abnormal hematological parameters. The number of female records (66%) was twice that of males and both genders showed higher distribution of thalassemia, followed by variants and double heterozygotes (DH). Several cases of thalassemia major were identified below the age of 17 years. The majority of thalassemia cases were β thal and 93% of them were β thal trait. Among the variants, HbS was more prevalent than HbE. Among the districts, Hassan had a 35.2% thal, Mysuru had a 7.2% variant, and Chitradurga had a 5.5% DH. Thalassemia, variants, and DH were distributed across several districts of Karnataka to various levels. Conclusion: The comprehensive retrospective analysis of the spectrum of hemoglobinopathies in various districts of Karnataka serves as evidence to carry out a prospective study on population screening where the incidence of thalassemia and structural variants is high.

Background: β-Thalassemia major patients require lifelong blood transfusions, leading to iron overload and liver injury. This study examines the longitudinal association between serum ferritin and liver function over 5 years in pediatric patients. Methods: This retrospective study included 582 transfusion-dependent thalassemia patients aged 1–18 years. Serum ferritin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), and albumin were measured annually. Correlation and linear regression analyses assessed associations between ferritin trajectories and liver enzymes. Results: Mean ferritin rose from 1820 ± 960 ng/mL at baseline to 4500 ± 1900 ng/mL at year 5, indicating worsening iron overload. AST and ALT levels also steadily climbed over follow-up, whereas albumin declined slightly. Ferritin correlated positively with AST (r = 0.675, P < 0.01) and ALT (r = 0.607, P < 0.01), but not with albumin (r = -0.143, P = 0.153) annually. The regression interaction term showed within-patient ferritin increases over time were independently associated with escalating AST and ALT (P < 0.05), after adjusting for confounders. Conclusion: Rising ferritin levels predict progressive liver injury in regularly transfused pediatric thalassemia patients. Tighter control of iron overload may help preserve hepatic function.

Mitapivat is the first in class oral allosteric activator of pyruvate kinase enzyme, leading to increased ATP production. Since red blood cells (RBC) rely on anaerobic metabolism, converting phosphoenolpyruvate to pyruvate in Embden– Meyerhof glycolytic pathway is the most important step for ATP production. Deficiency of ATP in patients with pyruvate kinase deficiency (PKD) leads to the destruction of RBCs. In hemoglobinopathies, including thalassemia and sickle cell disease, increased stress and utilization leads to rapid depletion of ATP resources.Phase II DRIVE PK study was the first randomized controlled trial that showed benefits in adult patients without regular transfusion requirement in regards to a rise in hemoglobin ≥1.0 g/dl and improvement in other parameters of hemolysis even with a low 50 mg twice daily dose. Minor adverse effects, including headache, insomnia, and nausea were reported.Subsequent adult studies like ACTIVATE III (non-transfusion-dependent) and ACTIVATE III – T (transfusion-dependent) in patients with PKD showed sustained hemoglobin response in 16/40 (40%) patients. It was tolerated well, and the adverse effect profile was similar to the previous study except for hypertriglyceridemia and hypertension in two patients.Phase I/II trials on patients with thalassemia and sickle cell anemia have also shown promising results in reducing transfusion burden and other disease-related co-morbidities, paving the way for further studies.Mitapivat appears to be a safe, well-tolerated, and effective drug for PKD and other RBC pathologies in adults. Results of ongoing pediatric studies in these settings are awaited to reveal its safety profile in children.

Abdullah Ahmed Meshi,1,&ast; Hisham Abu-Tawil,2,3 Abdulrahman Ahmed Hamzi,1 Basem Ali Madkhali,4 Ali Bohais Maghfori,1 Ismail Ibrahim Alnami,3 Hassan A Hamali,5 Maymoon Mohammed Madkhali6,&ast; 1Central Blood Bank, King Fahd Central Hospital, Ministry of Health, Jazan, Saudi Arabia; 2Department of Laboratory and Blood Bank, King Faisal Medical City for Southern Regions, Ministry of Health, Abha, Saudi Arabia; 3Department of Laboratory and Blood Bank, Prince Mohammed Bin Nasser Hospital, Ministry of Health, Jazan, Saudi Arabia; 4Department of Laboratory and Blood Bank, Samtah General Hospital, Jazan, Saudi Arabia; 5Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Jazan University, Jazan, Saudi Arabia; 6Regional laboratory and Central Blood Bank, Ministry of Health, Jazan, Saudi Arabia&ast;These authors contributed equally to this workCorrespondence: Maymoon Mohammed Madkhali, Regional laboratory and Central Blood Bank, Ministry of Health, National Address, GSJRC6587, Jazan, 86715, Saudi Arabia, Email maymoonm@moh.gov.saBackground: Alloimmunisation remains a major consequence of blood transfusion among sickle cell disease (SCD) and thalassemia patients due to the exposure to non-self-red blood cell (RBC) antigen. The complication is associated with transfusion reactions and delayed transfusion procedure because of the difficulty of finding compatible blood. This study aims to determine the prevalence of alloimmunisation to RBC and alloantibody specificities among SCD and thalassemia patients in, an endemic area of SCD and thalassemia, Jazan province of Saudi Arabia, from three major hospitals.Methods: This is a retrospective, multicenter cross-sectional study conducted on 1027 patients with SCD and thalassemia, which received Rh/K matched transfusions in 2019 in the three centers. Demographic data and medical records of participants from three transfusion institutions were collected and analysed.Results: A total of 1027 were enrolled in the cohort; 906 (88.2%) and 121 (11.8%) patients with SCD and thalassemia, respectively. There were 483 (47%) males and 544 (53%) females with median age of 15 (range 1– 48). Among the studied population, 78 were alloimmunised with an overall alloimmunisation rate of 7.6%. These patients developed a total of 108 alloantibodies, and anti-E was the most detected antibody (25.9%) followed by anti-K (24.1%).Conclusion: The overall rate of alloimmunisation to RBC antigen among the studied population in Jazan was low compared to other areas in the country. Most alloantibodies detected were against E and K antigens. The knowledge of most encountered alloantibodies in our population will aid in selecting the most appropriate antigen-negative red cells. Further research, however, is needed to explore factors associated with residual risk of alloimmunisation in these patients.Keywords: sickle cell disease, thalassemia, red cell transfusion, alloimmunisation, alloantibodies

Abstract A recent evidence gaps assessment of the clinical, health‐related quality of life, and economic burden associated with α‐thalassemia is lacking. We conducted a systematic literature review (SLR) following the methodological and reporting requirements of the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses and the Cochrane Handbook for Systematic Reviews, using available literature over the past decade. This SLR identified a considerable evidence gap with regard to understanding the current burden of α‐thalassemia as evident from paucity of studies published in the past 10 years. The limited data available still indicate that patients with α‐thalassemia experience substantial morbidity and quality of life/economic burden that is generally comparable to patients with β‐thalassemia.

Abstract Purpose This study aimed to evaluate the knowledge, attitude, and practice toward iron chelating agents (ICAs) in Iranian thalassemia major patients. Methods A total of 101 patients with thalassemia major were involved in this cross-sectional survey. A deep medication review was done, and participants’ knowledge, attitude, and practice were evaluated by a validated instrument based on a 20-scoring system. Results Statistical analyses showed 52 patients (51.5%) had a poor knowledge level (scores 15). Seventy-seven (76.2%) patients have positive beliefs regarding the dependence of their current health status on taking iron chelators, and 63 (62.4%) believed that they would become very ill without taking medication. The results also showed that the mean practice score in patients who received deferoxamine was 5.81 ± 3.50; in the patients who received deferiprone and those who received deferasirox, the mean scores were 7.36 ± 5.15 and 14.94 ± 4.14. Also, the knowledge and practice level had a direct linear correlation based on the regression analyses (P

\nObjectives: This study aimed to evaluate the distribution of genotypes and iron metabolism imbalance in transfusion-dependent thalassemia patients. Methods: Genotype analysis was conducted on 84 thalassemia patients requiring transfusion, and retrospective analysis of iron overload was performed on 48 transfusion-dependent patients. Results: Among the 84 thalassemia cases requiring transfusion, six mutations of α-thalassemia were identified, including --SEA, αCS, -α3.7, -α4.2, αQS, and αWS. Nine mutations of β-thalassemia were also found, with CD41-42 being the most common. Of the 48 transfusion-dependent patients, 40 (83.3%) had iron overload with serum ferritin (SF) levels above 1,000 ng/mL. The recent SF level was lower than 3 years ago, but the overall ferritin level remains elevated. Conclusions: β-thalassemia was the predominant type among transfusion-dependent thalassemia patients, with CD41-42/-28, CD41-42/IVS-II-654, and CD17/IVS-II-654 being the most common genotypes. Proper blood transfusion and iron chelation therapy are essential for managing transfusion-dependent thalassemia. While some patients show a reduction in SF levels after 3 years of treatment, there are still individuals who exhibit elevated levels necessitating ongoing management. This study is a retrospective research that investigates the genotype distribution and iron metabolic imbalance in thalassemia patients requiring blood transfusion. Eighty-four thalassemia patients needing transfusion were enrolled in the study and underwent genotype analysis. Among these patients, 56 were transfusion-dependent and 28 were non-transfusion-dependent. Of the 56 transfusion-dependent patients, 48 were observed for 3 years, and their iron overload status was analyzed in this study. Our research found that among the 84 thalassemia patients needing transfusion, there were six types of α-thalassemia deletions and nine types of β-thalassemia mutations. Among the 56 transfusion-dependent patients, three types of α-thalassemia genotypes and 15 types of β-thalassemia genotypes were identified. Among the 48 transfusion-dependent thalassemia patients observed for 3 years, 40 patients exhibited iron overload with SF levels exceeding 1,000 ng/mL. The recent SF levels were lower than those 3 years ago. Our study found that β-thalassemia is the most common type of transfusion-dependent thalassemia. Standard blood transfusion and iron chelation therapy are necessary for transfusion-dependent thalassemia patients. While some patients show a reduction in SF levels after 3 years of treatment, there are still individuals who exhibit elevated levels necessitating ongoing management. [ABSTRACT FROM AUTHOR]

Summary The alpha‐thalassaemia alleles are very frequent in the world's population. The main molecular mechanism is a large deletion with the loss of one or two alpha genes. Another type of rarer abnormality exists: the gain of alpha genes. The consequence of a gain is an overproduction of alpha‐globin chains, which aggravates a beta‐thalassaemia trait into an intermedia phenotype (non‐transfusion‐dependent thalassaemia, NTDT). Here, we report the case of a young girl referred for a beta‐NTDT with a combination never described in the literature: a heterozygous beta‐thalassaemia mutation associated with a copy number gain of the alpha‐globin locus and ‐alpha 3.7 deletion on the same allele. [ABSTRACT FROM AUTHOR]

β‐Thalassemia is a disease traditionally associated with thalassemia belt countries. Nonetheless, as global migration intensifies, β‐thalassemia–causing variants spread far from their origin. We investigated this process to detect some patterns underlying its course. We analyzed β‐thalassemia–causing variants and the origin of 676 unrelated participants in Moscow, the largest city of Russia, far away from the thalassemia belt. Our analyses revealed that modern Russia has one of the broadest spectra of thalassemia‐causing variants: 46 different variants, including two novel β0 variants. Only a small proportion of the reported pathogenic variants likely originated in the resident subpopulation. Almost half of the variants that supposedly had emerged outside the Russian borders have already been assimilated by (were found in) the resident subpopulation. The primary modern source of immigration transferring thalassemia to a nonthalassemic part of Russia is the Caucasus region. We also found traces of ancient migration flows from non‐Caucasus countries. Our data indicate that β‐thalassemia–causing variants are actively spilling over into resident populations of countries outside thalassemia belt regions. Therefore, viewing thalassemia as a disease exclusive to specific ethnic groups creates a mind trap that can complicate the diagnosis. [ABSTRACT FROM AUTHOR]

Objective: To study the mandibular changes in the β-thalassemia major patient. Study Design: Cross sectional study. Setting: Husaini Blood Bank and Institute of Hematological Diseases Karachi, Department of Oral and Maxillofacial Surgery, and Department of Orthodontics, Baqai Dental College Baqai Medical University, Karachi. Period: January 2023-December 2023. Methods: 50 Orthopanthogram (OPG) radiographs of beta-thalassemia major patient were taken, analyzed and compared to check any variation from normal. Fifty diagnosed β-thalassemia major patients were voluntarily selected through convenience sampling. The study was carried out in collaboration of Husaini Institute of Blood Diseases Karachi, National institute of Oral Diseases Karachi Pakistan and, Department of Oral and Maxillofacial Surgery and department of orthodontics Baqai Dental College Baqai Medical University. Results: 18 (36%) patient's alteration of trabecular pattern are present and in 32 (64%) patient alteration of trabecular pattern absent. Similarly, in 16 (32%) patients have short spiky roots are present and 34 (68%) patients short spiky roots absent. Conclusion: Effect of anemia is not so profound in mandible of thalassemia patients from population of Karachi. [ABSTRACT FROM AUTHOR]

Introduction: This cross-sectional study intends to analyze the physical growth of children thalassemia patients and evaluate the factors linked to their physical features. Materials and methods: This cross-sectional study tracked 44 pediatric thalassemia patients at a Central Vietnam Tertiary Pediatric Center from February to December 2023. Results: The study participants had a mean age of 7.5 ± 4.3 years and an equal gender distribution. 64.5% of these individuals had thalassemia and required blood transfusions. 43.2% of subjects had serum ferritin levels above 1000 ng/ml, and the average hemoglobin content was 67.4 ± 16.1 g/L 31.8% of the children assessed had height-for-age measurements below -2 standard deviations, while 43.2% had weight-for-age measurements below -2 standard deviations. Significant correlations were found between height-for-age, weight-for-age, blood transfusion reliance, and serum ferritin levels (p < 0.05). No significant changes were seen between physical indices and disease type or hemoglobin concentration (p > 0.05). 31.8% of juvenile thalassemia patients were found to have stunting, whereas 43.2% exhibited wasting malnutrition in this study. Conclusion: Blood transfusion reliance and serum ferritin concentration were found to be linked to a higher occurrence of stunting and wasting malnutrition in children with thalassemia [ABSTRACT FROM AUTHOR]

Background: Cardiac magnetic resonance imaging (CMR) is the modality of choice for quantification of myocardial iron overload in β-thalassemia major patients using the T2* sequence. CMR feature tracking (FT) is a recent magnetic resonance imaging tool that gives an idea about myocardial fibers deformation; thus, it can detect early impairment in myocardial function even before the reduction in ejection fraction. Methods: This study aims to assess the ability of left ventricular CMR-FT in the early detection of systolic dysfunction in β thalassemia major patients and to correlate it with the degree of myocardial iron overload measured by CMR T2*. This prospective study enrolled 57 β thalassemia major patients who received long-term blood transfusion and 20 healthy controls. CMR was used to evaluate left ventricular volumes, ejection fraction, and the amount of myocardial T2*. A two-dimensional left ventricular FT analysis was performed. Both global and segmental left ventricular strain values were obtained. Results: The mean global circumferential strain (GCS) and global radial strain (GRS) values were significantly lower in patients compared to control (P = 0.002 and P = 0.006, respectively). No correlation was found between T2* values and ejection fraction; however, there was a significant correlation between T2* values and GCS and GRS (P = 0.012 and P = 0.025, respectively) in thalassemia patients. Regional strain revealed significantly lower values of GCS and GRS in basal regions compared to apical ones (P = 0.000). Conclusions: Our study revealed that CMR-FT can play a role in the early detection of systolic impairment in thalassemia patients. [ABSTRACT FROM AUTHOR]

• Transfusion-related challenges for thalassemia patients in India. • High burden of alloimmunization. • The potential risk of Transfusion-transmitted infections. • Need of a collaborative approach to improve thalassemia care. The introduction of regular red blood cell transfusions transformed thalassemia major from a fatal childhood disease into a chronic disorder. Thalassemia is highly prevalent in South Asia, including the Indian subcontinent, and blood transfusion remains the cornerstone of management for these patients. But safe blood transfusions still remain a major problem in India. Difficulties in maintaining adequate blood inventory, a lack of a national blood act, and fragmented blood transfusion services are some of the major contributing factors for the delay in blood supply. In most of the blood centers, alloantibody detection facilities and extended red cell antigen typing are unavailable. Awareness is the key to reducing alloimmunization, which limits the effectiveness of transfusions and the potential availability of blood. Patients with thalassemia are also at high risk of transfusion-transmitted infections unless appropriate blood screening is in place. Hence, many patients remain under-transfused, resulting in decreased health and quality-of-life outcomes. Facilities such as leucoreduction and immunohematological monitoring following a blood transfusion are often lacking in India, especially at the sub-district level. Continuous efforts to raise community awareness, regular training of health-care workers, and proper utilization of available resources are essential to ensuring safe blood transfusions for patients with thalassemia. Access to the new treatments at an affordable cost may reduce the blood transfusion burden for thalassemia patients in India. [ABSTRACT FROM AUTHOR]

REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of new centres during this period, has considerably increased the sample of patients covered. In this study, we update our previous publication in this area, after a follow-up of more than 5 years. An observational, descriptive, multicentre and ambispective study of adult and paediatric patients with haemoglobinopathies and rare anaemias registered in REHem was performed. The data are from a cross-sectional analysis performed on 1 June, 2023. The study population comprised 1,756 patients, of whom 1,317 had SCD, 214 had thalassaemia and 224 were diagnosed with another condition. Slightly more than one third of SCD patients (37%) were diagnosed based on neonatal bloodspot screening, and the mean age at diagnosis was 2.5 years; 71% of thalassaemia patients were diagnosed based on the presence of anaemia. Vaso-occlusive crisis and acute chest syndrome continue to be the most frequent complications in SCD. HSCT was performed in 83 patients with SCD and in 50 patients with thalassaemia. Since the previous publication, REHem-AR has grown in size by more than 500 cases. SCD and TM are less frequent in Spain than in other European countries, although the data show that rare anaemias are frequent within rare diseases. REHem-AR constitutes an important structure for following the natural history of rare anaemias and enables us to calculate investment needs for current and future treatments. [ABSTRACT FROM AUTHOR]

Background: The T2* value of interventricular septum is routinely reported for grading myocardial iron load in thalassemia major, and automatic segmentation of septum could shorten analysis time and reduce interobserver variability. Purpose: To develop a deep learning‐based method for automatic septum segmentation from black‐blood MR images for the myocardial T2* measurement of thalassemia patients. Study Type: Retrospective. Population/Subjects: One hundred forty‐six transfusion‐dependent thalassemia patients with cardiac MR examinations from two centers. Data from Center 1 (1.5 T) were assigned to the training (100 examinations) and internal testing (20 examinations) sets; data from Center 2 were assigned to the external testing set (26 examinations; 10 at 1.5 T and 16 at 3.0 T). Field Strength/Sequence: 1.5 T and 3.0 T, multiecho gradient‐echo sequence. Assessment: A modified attention U‐Net for septum segmentation was constructed and trained, and its performance evaluated on unseen internal and external datasets. T2* was measured by fitting the average septum signal, separately segmented by automatic and manual methods. Statistical Tests: Agreement between manual and automatic septum segmentations was assessed with the Dice coefficient, and T2* agreement was assessed using the Bland–Altman plot and the coefficient of variation (CoV). Results: The median Dice coefficient of deep network‐based septum segmentation was 0.90 [0.05] on the internal dataset, 0.82 [0.10] on the external 1.5 T dataset, and 0.86 [0.14] on the external 3.0 T dataset. T2* measurements using automatic segmentation corresponded with those from manual segmentation, with a mean difference of 0.02 (95% LoA: −0.74 to 0.79) msec, 0.43 (95% LoA: −2.1 to 3.0) msec, and 0.36 (95% LoA: −0.72 to 1.4) msec on the three datasets. The CoVs between the two methods were 3.1%, 7.0%, and 6.1% on the internal and two external datasets, respectively. Data Conclusions: The proposed septum segmentation yielded myocardial T2* measurements which were highly consistent with those obtained by manual segmentation. This automatic approach may facilitate data processing and avoid operator‐dependent variability in practice. Evidence Level: 4 Technical Efficacy: Stage 1 [ABSTRACT FROM AUTHOR]

Background: A common complication of thalassemia is secondary osteoporosis. This study aimed to assess the prevalence and factors associated with low BMD in thalassemic patients. Method: This is a cross-sectional study. Eligible patients were males aged within 18-49 years or premenopausal women diagnosed with thalassemia in Chiang Mai University Hospital between July 2021 and July 2022. The diagnosis of low BMD by dual-energy x-ray absorptiometry (DXA) was defined as a Z-score of -2.0 SD or lower in either the lumbar spine or femoral neck. Clinical factors associated with low BMD were analyzed using a logistic regression model. Results: Prevalence of low BMDwas 62.4% from 210 patientswith a mean age of 29.7 ± 7.6 years. The predominant clinical characteristics of low BMD thalassemia patients were being female, transfusion-dependent (TDT) and a history of splenectomy. From multivariable analysis, the independent variables associated with low BMD were transfusion dependency (odds ratio, OR 2.36; 95%CI 1.28 to 4.38; p=0.006) and body mass index (BMI) (OR 0.71; 95%CI 0.61 to 0.82; p<0.001). Among patients with low BMD, we observed a correlation between a Z-score with low IGF-1 levels (b=-0.42; 95% CI -0.83 to -0.01; p=0.040), serum phosphate levels (b=0.40; 95% CI 0.07 to 0.73; p=0.016) and hypogonadism (b=-0.48, 95% CI -0.91 to -0.04, p=0.031). Conclusion: This study found a prevalence of low BMD in 62.4% of subjects. Factors associated with low BMD were TDT and BMI. Within the low BMD subgroup, hypogonadism, serum phosphate and low serum IGF-1 levels were associated with a lower Z-score. [ABSTRACT FROM AUTHOR]

Hb H disease is the most severe form of α-thalassemia compatible with post-natal life. Compound heterozygous α0-thalassemia− SEA deletion/α+-thalassemia− 3.7kb deletion is the commonest cause of Hb H disease in Thailand. Preimplantation genetics testing for monogenic disorders (PGT-M) is an alternative for couples at risk of the disorder to begin a pregnancy with a healthy baby. This study aims to develop a novel PCR protocol for PGT-M of Hb H disease− SEA/−3.7kb using multiplex fluorescent PCR. A novel set of primers for α+-thalassemia− 3.7kb deletion was developed and tested. The PCR protocol for α0-thalassemia− SEA deletion was combined for Hb H disease− SEA/−3.7kb genotyping. The PCR protocols were applied to genomic DNA extracted from subjects with different thalassemia genotypes and on whole genome amplification (WGA) products from clinical PGT-M cycles of the families at risk of Hb Bart's. The results were compared and discussed. The results showed three PCR products from α+-thalassemia− 3.7kb primer set, and three from α0thalassemiaSEA primer set. The results were consistent with the known thalassemia genotypes. The novel -α3.7 primers protocol was also tested on 37 WGA products from clinical PGT-M cycles giving accurate genotyping results and a satisfying amplification efficiency with the ADO rates of 2.7%, 0%, and 0% for HBA2, HBA1, and internal control fragments, respectively. This novel PCR protocol can precisely distinguish Hb H disease− SEA/−3.7kb from other genotypes. Additionally, this is the first PCR protocol for Hb H disease− SEA/−3.7kb which is optimal for PGT-M. [ABSTRACT FROM AUTHOR]

In the Mediterranean Basin, the pistachio crop is considered an emerging nut crop due to the dependence of the European nut markets on international imports. Consequently, the extension and intensification of pistachio production to nontraditional growing areas has promoted both classic and emerging diseases of this nut tree, which are limiting factors in crop production. Due to the limited interest in pistachio crops, the aetiology and epidemiology of the main pistachio diseases are poorly studied. Thus, this review summarizes the state of pistachio disease research, with particular attention given to the Mediterranean area. The information reported here is based not only on the literature, but also the advancement of our research on pistachio diseases conducted in both Italy and Spain. We describe the main fungal diseases of the tree canopy in Mediterranean countries, such as Botryosphaeria panicle and shoot blight, Septoria leaf spot, and stem, branch and trunk canker diseases, followed by the main soilborne diseases. In addition, we review minor and/or sporadic fungal diseases originating in not only the Mediterranean, but also other pistachio‐producing countries. Another section is dedicated to other diseases caused by bacteria, phytoplasmas, viruses and nematodes. Finally, we summarize the main control strategies adopted in Mediterranean Basin countries against pistachio diseases. [ABSTRACT FROM AUTHOR]

Hemoglobin (Hb) H disease presents a wide range of clinical phenotypes, from asymptomatic to severe forms, depending on significant genetic heterogeneity. This is the first report of clinical and hematological features of the nondeletional HbH disease caused by --CR/αCSα. A baby was born to a father and a mother with --CR and αCSα carriers, respectively. She had severe symptomatic hypochromic microcytic anemia at 2 months of age with Hb 7.8 g/dL, packed cell volume (PCV) 0.27 L/L, mean corpuscular volume (MCV) 64.3 fL, and mean corpuscular Hb (MCH) 18.3 pg. The Hb analysis using capillary electrophoresis (CE) showed Hb Bart's, HbH, and Hb CS peaks at 17.1%, 2.2%, and 1.6%, respectively. A better understanding of a patient's clinical and hematological features with --CR/αCSα is useful for hemoglobinopathy counseling for the national thalassemia controlling program. [ABSTRACT FROM AUTHOR]

α-thalassemia major (α-TM) often causes Hb Bart's (c4) hydrops fetalis and severe obstetric complications in the mother. Step-wise screening for couples at risk of having offspring(s) affected by α-TM is the efficient prevention method but some rare genotypes of thalassemia cannot be detected. A 32-year-old male with low HbA2 (2.4%) and mild anemia was performed real-time PCR-based multicolor melting curve analysis (MMCA) because his wife was –SEA deletion carrier. The result of multiplex ligation-dependent probe amplification (MLPA) suggested the existence of –SEA deletion in the proband. A novel deletion of the α-globin gene cluster was found using self-designed MLPA probes combined with longer PCR, which was further accurately described to be 16.8Kb (hg38, Chr16:1,65,236–1,82,113) deletion by the third-generation sequencing. A fragment ranging from 1,53,226 to 1,54,538(GRch38/hg38) was identified which suggested the existence of the homologous recombination event. The third-generation sequencing is accurate and efficient in obtaining accurate information for complex structural variations. [ABSTRACT FROM AUTHOR]

We report the discovery of a novel β-globin gene variant, Hb Odder, characterized by a single nucleotide substitution; HBB:c.316C > G; CD105 (Leu > Val). This variant emerged incidentally during routine HbA1c measurements for diabetes monitoring. The patient exhibited no clinical or biochemical evidence of anemia or hemolysis. Our data on this variant suggest that Hb Odder is benign, regrettably limitations in our data make formal evaluations of stability and oxygen affinity impossible; additionally this emphasizes the importance of considering hemoglobin variants in the differential diagnosis of abnormal Hb A1c levels and suggest that laboratories should use alternative methods for the correct measurement of Hb A1c when hemoglobin variants interfere with diabetes monitoring. Notably, three other mutations have been described at codon 105 of the β globin chains and correspond to three Hb variants with different characteristics: Hb South Milwaukee, Hb Bellevue IV and Hb St. George. [ABSTRACT FROM AUTHOR]

In eukaryotic RNA, N6‐methyladenosine (m6A) is a prevalent form of methylation modification. The m6A modification process is reversible and dynamic, written by m6A methyltransferase complex, erased by m6A demethylase, and recognized by m6A binding proteins. Through mediating RNA stability, decay, alternative splicing, and translation processes, m6A modification regulates gene expression at the post‐transcriptional level. Erythropoiesis is the process of hematopoietic stem cells undergoing proliferation, a series of differentiation and maturation to form red blood cells (RBCs). Thalassemia is a common monogenic disease characterized by excessive production of ineffective RBCs in the peripheral circulation, resulting in hemolytic anemia. Increasing evidence suggests that m6A modification plays a crucial role in erythropoiesis. In this review, we comprehensively summarize the function of m6A modification in erythropoiesis and further generalize the mechanism of m6A modification regulating ineffective erythropoiesis and fetal hemoglobin expression. The purpose is to improve the understanding of the pathogenesis of erythroid dysplasia and offer new perspectives for the diagnosis and treatment of thalassemia. [ABSTRACT FROM AUTHOR]

This article discusses a case of de novo α+‐thalassaemia, a type of thalassaemia, in a Chinese family. The study verified the presence of a ‐α3.7 deletion causing thalassaemia in the proband, which was not found in either parent, suggesting that it may have developed as a de novo occurrence. The researchers used various detection methods, including CATSA analysis, to confirm the mutation and explore its origin. The study concludes that CATSA analysis can aid in obtaining a molecular diagnosis for de novo thalassaemia in affected populations. [Extracted from the article]

Background: Thalassemia is a genetic blood disorder in children that results in the production of abnormal hemoglobin, leading to severe anemia and the need for frequent blood transfusions. Without proper management, these transfusions can cause iron overload in the body, which can damage vital organs such as the heart and liver. Therapy with oral iron chelators is crucial for these children, as it helps to remove the excess iron and prevent potential complications. The aim of this study was to assess and compare the effectiveness and safety of oral iron chelators, both when administered alone and in combination, in children with thalassemia who receive several blood transfusions. Materials and Methods: The study was carried out in the Department of Pediatrics, Sri Balaji Medical College and Hospital, over a period of ¬¬¬¬24 months. The study included 75 children with thalassemia who had undergone several transfusions and were receiving daily treatment with iron chelation. Results: The current study included 75 children with thalassemia who had received multiple blood transfusions. For duration of 12 months, they received daily iron chelation therapy with either deferiprone alone (Group 1), deferasirox alone (Group 2), or a combination of the two (Group 3). The serum ferritin levels were found to be reduced in all 3 groups, however the difference was not significant. The hepatic T2- MRI values had increased from baseline to folloup, however the difference was significant only in Group 3. The reduction of cardiac T2* MRI value was significantly reduced in Group 3 from baseline to follow-up. Conclusion: This study concluded that deferiprone and deferasirox were effective and safe when administered alone in children with thalassemia who had received several transfusions. [ABSTRACT FROM AUTHOR]

Background: Mutations affecting transcription, translation, or beta-globin stability, among other stages of beta-globin production, cause beta-thalassemia. Methods: Beta-thalassemia results in a high red blood cell count with a low mean corpuscular volume (60-70fl) and mean corpuscular hemoglobin (19-23pg), and Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) is recommended for mass screening of populations. Among tribals in Dharmapuri district, this cross-sectional analysis evaluated the efficacy of RBC and NESTROFT against HPLC, regarded as the gold standard, in a study involving 484 subjects. Results: Findings indicated that out of the 484 samples, 73 tested positive for the beta-thalassemia trait through HPLC. The NESTROFT test demonstrated 87% sensitivity, 98.5% specificity, a positive predictive value of 99.3%, and a negative predictive value of 73.3%. In the multivariate analysis, NESTROFT and hemoglobin showed high significance with P values of 0.003 and 0.000, respectively. Conclusion: NESTROFT's high sensitivity is particularly noteworthy due to the absence of research among the Malayali tribes in the Dharmapuri district. Adoption of this preliminary test shows promise in detecting the disease at the local level, providing important information for early detection, especially considering the sizeable tribal population. [ABSTRACT FROM AUTHOR]

Background: β-Thalassemia major patients require lifelong blood transfusions, leading to iron overload and liver injury. This study examines the longitudinal association between serum ferritin and liver function over 5 years in pediatric patients. Methods: This retrospective study included 582 transfusion-dependent thalassemia patients aged 1-18 years. Serum ferritin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), and albumin were measured annually. Correlation and linear regression analyses assessed associations between ferritin trajectories and liver enzymes. Results: Mean ferritin rose from 1820 ± 960 ng/mL at baseline to 4500 ± 1900 ng/mL at year 5, indicating worsening iron overload. AST and ALT levels also steadily climbed over follow-up, whereas albumin declined slightly. Ferritin correlated positively with AST (r = 0.675, P < 0.01) and ALT (r = 0.607, P < 0.01), but not with albumin (r = -0.143, P = 0.153) annually. The regression interaction term showed within-patient ferritin increases over time were independently associated with escalating AST and ALT (P < 0.05), after adjusting for confounders. Conclusion: Rising ferritin levels predict progressive liver injury in regularly transfused pediatric thalassemia patients. Tighter control of iron overload may help preserve hepatic function. [ABSTRACT FROM AUTHOR]

This article discusses the presence of mild bleeding symptoms in individuals with severe hemophilia A and thalassemia disease. It is noted that a small percentage of individuals with severe hemophilia A experience mild bleeding symptoms, and half of them have prothrombotic gene mutations. Thalassemia disease, a type of anemia, has also been linked to a hypercoagulable state. The article presents a case study of a child with both thalassemia and mild hemophilia A, highlighting their bleeding symptoms and the use of genetic testing to identify gene abnormalities. The study found that the hypercoagulable state in thalassemia reduced bleeding in hemophilia A, and that red blood cell transfusions corrected anemia and reduced the hypercoagulable state in thalassemia patients. The study also identified a mutation in a specific gene that explained the patient's low factor VIII activity. Overall, the study suggests that thrombin generation assays can be useful in guiding treatment for individuals with thalassemia and hemophilia A. [Extracted from the article]

Background: Iron overload is a major complication in patients with beta-thalassemia major. Excessive iron accumulation leads to organ dysfunction. The regular assessment of iron is crucial to effectively manage iron overload in these patients. This study evaluated the correlation between serum ferritin levels, the Aspartate Aminotransferase-to-Platelet Ratio Index (APRI), and hepatic MRI T2* findings in children with betathalassemia major. Materials and Methods: This retrospective analytical study was conducted at Shahid Sadoughi Hospital in Yazd in 2023. The research population comprised all the children under the age of 15 with beta-thalassemia major who had undergone multiple blood transfusions (at least ten units of blood). Results: The participants in this study were 70 children with beta-thalassemia major, including 35 males and 35 females. Their mean age was 3.52 ± 10.76 years. The mean relaxation time of liver MRI T2* was 4.42 ± 4.91 ms. The participants also had the APRI score of 0.55 ± 1.90, the aspartate aminotransferase (AST) level of 23.82 ± 36.29, and the serum ferritin level of 285.01 ± 3244.04 (ng/mL). Based on MRI T2* results, 30% of the patients had a severe liver iron overload, 27.1% had a moderate overload, 21.4% had a severe overload, 18.6% had a mild overload, and 2.9% had near-normal iron levels. The AST level demonstrated a significant association with the type of chelation treatment (P = 0.003). The duration of blood transfusion (in years) showed a strong positive correlation with the patients' age (Pearson's coefficient = 0.996). Conclusion: This study indicates the elevated serum ferritin levels and APRI scores in patients with betathalassemia major, most of whom have abnormal MRI T2* findings. However, no significant correlation was observed between the APRI score, serum ferritin level, and MRI T2* results. [ABSTRACT FROM AUTHOR]

Context.--Recently, new technologies, such as nextgeneration sequencing and third-generation sequencing, have been used in carrier screening of thalassemia. However, there is no direct comparison between the 2 methods in carrier screening of thalassemia. Objective.--To compare the clinical performance of third-generation sequencing with next-generation sequencing in carrier screening of thalassemia. Design.--Next-generation sequencing and third-generation sequencing were simultaneously conducted for 1122 individuals in Hainan Province. Results.--Among 1122 genetic results, 1105 (98.48%) were concordant and 17 (1.52%) were discordant between the 2 methods. Among the 17 discordant results, 4 were common thalassemia variants, 9 were rare thalassemia variants, and 4 were variations with unknown pathogenicity. Sanger sequencing and polymerase chain reaction for discordant samples confirmed all the results of thirdgeneration sequencing. Among the 685 individuals with common and rare thalassemia variants detected by third-generation sequencing, 512 (74.74%) were carriers of athalassemia, 110 (16.06%) were carriers of b-thalassemia, and 63 (9.20%) had coinheritance of a-thalassemia and bthalassemia. Three thalassemia variants were reported for the first time in Hainan Province, including --THAI, -α2.4, and ααααanti3.7. Eleven variants with potential pathogenicity were identified in 36 patients with positive hemoglobin test results. Among 52 individuals with negative hemoglobin test results, 17 were identified with thalassemia variants. In total, third-generation sequencing and next-generation sequencing correctly detected 763 and 746 individuals with variants, respectively. Third-generation sequencing yielded a 2.28% (17 of 746) increment compared with next-generation sequencing. Conclusions.--Third-generation sequencing was demonstrated to be a more accurate and reliable approach in carrier screening of thalassemia compared with next-generation sequencing. [ABSTRACT FROM AUTHOR]

Background: Patients with thalassemia are prone to dental decay, although they are unconcerned about maintaining regular oral hygiene. The purpose of this study was to evaluate the oral hygiene status and dental caries experience of beta-thalassemia major patients in a tertiary care centre to those of healthy controls from the same centre. Methods: Participants in the study ranged in age from 16 to 55 years. All study participants’ carers or parents provided informed written consent. This research was carried out over a six-month period. All participants in the study were divided into two groups: (a) Group A (n = 30) consisted of patients with transfusion dependent thalassemia, and (b) Group B (n = 30) consisted of age- and sex-matched healthy controls. Following a thorough general examination, including demographic data, an intraoral examination was performed using the DecayedMissing-Filled Permanent Teeth Index (DMFT Index) and the Oral Hygiene Index-Simplified (OHI-S) [Calculus Index (CI) and Debris Index (DI)]. Results: Sociodemographic characteristics revealed that the mean age of the case group was not statistically significant, that male cases outnumbered controls, and that the p value was not significant. However, when the OHI-S and DMFT indexes were examined, the p values were significant in both situations. Conclusions: Thalassemia patients are more prone to poor oral hygiene and carious lesions. Early visit to dentist is a key to good oral health for thalassemia population and prevents many emergencies and surgical episodes [ABSTRACT FROM AUTHOR]

Background: Low BMD is a common problem in major thalassaemia patient, but the use of DXA in chronic disease children with smaller bones, has some problems. Utilizing bone mineral apparent density (BMAD) helps in preventing this obstacle. Testing the usefulness of this method in resolving the effects of bone size on BMD by comparing the BMD and BMAD of our thalassemics with results of our healthy ones, is our goal. Methods: Sample size was 110 cases with mean age of 9.6 ± 4.3 y/o and contained 73 males. Gauge of BMDs done by dual x-ray absorptiometry. Then BMAD was calculated. We did comparison of BMDs and BMADs results of thalassemic children with results of healthy Iranian pediatrics. Results: Mean of femoral BMD and BMAD, spinal BMD and BMAD was 0.579±0.134 g/cm2, 0.162±0.096 g/cm3, 0.563±0.118 g/cm2 and 0.107±0.015, respectively. When results of 9-18 patients compared with BMDs and BMADs of normal children, BMD of femur and BMD and BMAD of spine of patients found significantly lower (P-values, 0.003, <0.001, <0.001, respectively). BMAD of femur of patients was not significantly different from normals. Conclusion: When bone mineral density of femur modifies by bone mineral apparent density formula, the remarkable difference between BMD of patients and normals; vanishes. Utilizing bone mineral apparent density helps in interpretation of femoral dual X-ray absorptiometry at least in thalassemic patients. As the results of vertebrae, after modification by calculating BMAD, remains significantly different, we cannot bring forward BMAD for mentioned aim in the spine of thalassemics. [ABSTRACT FROM AUTHOR]

Background and Objectives: Emerging evidence is placing the Mediterranean diet (MD) in the spotlight as a potential dietary model that could benefit inflammatory bowel disease (IBD) patients in terms of prevention and progress of the disease. The main aim of the present study is to shed some light on the relationship between the adherence to the MD and the degree of disease activity, as well as the quality of life in patients with Crohn's disease (CD). Materials and Methods: An administered questionnaire was used to assess and record a number of parameters, including recent medical and weight history, anthropometric characteristics, disease activity (in remission or active disease), and quality of life of both male and female CD patients. Moreover, the level of compliance of the participants to the Mediterranean diet model was evaluated and its relationship with disease activity and quality of life was investigated. Results: Adherence to the MD was significantly higher in patients with inactive disease than in those with active disease (p = 0.019). According to the correlation analysis conducted, adherence to the MD was negatively correlated with disease activity (p = 0.039) and positively correlated with quality of life (QoL) (p = 0.046) of the participants. Intake of fruits, vegetables, and dairy products was significantly higher in remission patients (p = 0.046, p = 0.001, p = 0.041, respectively). Conclusions: We conclude, according to the findings of the study, that adherence to the MD is associated with disease activity and QoL in patients with CD. Future research should focus on MD intervention studies on IBD patients in order to assess its effect on modulating disease activity/course and related inflammatory biomarkers. [ABSTRACT FROM AUTHOR]

Objective To explore the clinical efficacy and related complications of allogeneic hematopoietic stem cell transplantation in the treatment of thalassemia. Methods A retrospective analysis of the efficacy and related complications of 54 patients with thalassemia who underwent allogeneic hematopoietic stem cell transplantation in the Department of Hematology of the hospital from November 2018 to September 2021. Results The implantation rate was 100.0%, the thalassemia-free survival rate was 98.1%, and there were 8 cases of acute graft-versus-host disease (aGVHD), the incidence rate was 14.8%. Further analysis of the related risk factors for aGVHD showed that there were statistical differences among different donor sources (P< 0.05). Among other related complications of transplantation, there was a statistical difference between age and CMV(P<0.05), and there was a statistical difference between donor source and hemorrhagic cystitis(HC) (P <0.05). Conclusion Allogeneic hematopoietic stem cell transplantation can effectively treat thalassemia, and donor source and age may be risk factors for complications after transplantation. [ABSTRACT FROM AUTHOR]