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Background/Objectives: Severe unstable hemoglobinopathies may cause transfusion dependence from early childhood, and allogeneic hematopoietic cell transplantation (allo-HCT) is the only established curative option. Pediatric experience with allo-HCT...
Background/Objectives: Beta-thalassemia and sickle cell disorders are among the most common inherited hemoglobin disorders affecting tribal populations in India, with marked ethnic and geographic heterogeneity. Although exploratory multivariate appro...
Background: Sickle cell disease (SCD) and β-thalassemia are chronic thromboinflammatory disorders associated with venous, arterial, and microvascular thrombotic complications. However, evidence regarding disease-specific risk stratification and...
Background/Objectives: Endothelial dysfunction is increasingly recognized as a key contributor to vascular complications in β-thalassemia but remains insufficiently integrated into clinical assessment and therapeutic trial design. This review su...
Background/Objectives: The background of the research shows that β-thalassemia is a hemoglobinopathy which is characterized by ineffective erythropoiesis and iron overload and this is kept in balance by hepcidin hormone due to BMP/SMAD and JAK/S...
Background: Sickle cell disease (SCD) is a hereditary hemoglobinopathy characterized by chronic anemia, recurrent pain episodes, and multi-organ complications, which collectively impact patients’ quality of life and functional capacity. Exercis...
Background: β-Thalassemia and other β-hemoglobinopathies arise from defective β-globin production, and reactivating fetal hemoglobin (HbF) is a well-established strategy to ameliorate disease severity. Two principal gene-therapy approa...
Thalassemia represents the world’s most prevalent inherited hemoglobin disorder, affecting approximately 4.4 per 10,000 live births globally. Accurate genetic characterization is indispensable both for definitive diagnosis and for lifetime clin...
Background: Thromboembolic events (TEEs) are recognized complications in thalassaemia, arising from a hypercoagulable state driven by multiple proposed mechanisms. These concerns have prompted numerous investigations to better understand the underlyi...
Background: Screening for hemoglobinopathies, particularly in Mediterranean countries, is primarily aimed at preventing beta-thalassemia. However, during such screening, numerous other Hb defects can be diagnosed, each with different clinical signifi...
Background/Objectives: Beta-thalassemia (β-thal) is an inherited hemoglobin disorder caused by mutations in the HBB gene. Hb Malay (HBB:c.59A>G [NM_000518.5], p.Asn20Ser, CD19), a missense substitution (AAC→AGC; Asn→Ser) in exon 1 o...
Background: Beta-thalassemia is a hereditary hematological illness in which beta-globin chain synthesis is missing or decreased, resulting in inefficient erythropoiesis, persistent hemolysis, and anemia. It is most frequently observed in populations...
β-thalassemia is one of the most prevalent inherited hemoglobin disorders worldwide and represents a major public health challenge in Southeast Asia, particularly in Vietnam. The disorder is caused by pathogenic variants in the β-globin (HB...
Background: Left ventricular (LV) dysfunction remains the leading cause of mortality in transfusion-dependent beta-thalassemia (TDßT), yet conventional echocardiography often fails to detect early myocardial impairment. This study aimed to comp...
Objectives: Patients with thalassemia major are at high risk of developing blood-borne infections, including toxoplasmosis, due to their dependence on frequent blood transfusions and underlying immune system disorders. This study was designed to inve...
Thalassemia is an inherited hemoglobin disorder caused by reduced or absent globin chain synthesis, with heterogeneous distribution worldwide and in Brazil. Back-ground/Objectives: This systematic review aimed to estimate the frequency of thalas-semi...
Background: Advances in medical genetics and prenatal diagnosis have improved the detection of fetal abnormalities during pregnancy. The findings may lead some couples to consider termination of pregnancy (TOP). This study aimed to explore parental p...
Objective: To determine plasma cystatin C concentrations, urine osmolality and their relationship with disease severity in beta-thalassemia patients. Methods: A cross-sectional study was conducted on 234 patients with beta-thalassemia, including equa...
Thalassemia is an inherited hemoglobin disorder characterized by chronic hemolytic anemia and substantial long-term healthcare needs. In β-thalassemia major, patients typically require regular red blood cell transfusions with iron chelation to p...
Background: This study investigated the clinical characteristics of consultands and examined their perceived personal control, satisfaction, and decision-making regarding genetic testing, as well as the factors influencing these outcomes, at a tertia...
Background and Objective: Iron overload remains a significant clinical concern in patients with transfusion-dependent beta-thalassemia (TDT). This study aims to characterize the iron load and endocrine profile of adult transfusion-dependent beta-thal...
Background and aim: Hemoglobinopathies have become an important public health problem due to global migration. The aim of this project was to address the problem of hemoglobinopathy among immigrants living in Türkiye, Spain, and Italy, in additi...
Background: β-thalassemia is a rare genetic disorder affecting 1–5% of the global population and poses a health burden due to migration of individuals from endemic regions. Identifying asymptomatic β-thalassemia carriers is essential...
β-thalassemia patients often experience ocular abnormalities such as angioid streaks (ASs), retinal pigmented epithelium degradation, visual field defects, and in rare instances choroidal neovascularization (CNV). Although ASs are common in indi...
Background/Objectives: Thalassemia is highly prevalent in Indonesia, and its treatment imposes a significant financial burden. To date, thalassemia management in Indonesia remains largely limited to supportive therapies. This report aims to present t...
Background/Objectives: Thalassemia is among the most common hereditary disorders globally, characterized by impaired hemoglobin synthesis and ineffective erythropoiesis. This study analyzed data on hemoglobinopathies, with a particular focus on thala...
Background/Objectives: Thalassemia significantly affects the mental well-being and lifestyle of patients and their families. This study evaluated the temporal changes in quality of life (QoL) and psychological burden among thalassemia patients in 202...
β-thalassemia is a chronic genetic blood disorder characterized by defective β-globin synthesis, requiring frequent transfusions and resulting in iron overload, immune dysfunction, and increased susceptibility to infections. In these immuno...
Background/Objectives: Thalassemias, a hereditary condition commonly linked to chronic anemia, require regular blood transfusions and repeated blood draws for assessments of hemoglobin (Hb) content, which can be uncomfortable. A promising substitute...
Background: It has been shown that human leucocyte antigen (HLA) alleles are related to certain diseases. Some alleles were associated with alloimmunization in individuals with thalassemia. In this study, we studied the distribution of HLA alleles am...
The risk of anemia and iron overload is a global concern in beta (β)-thalassemia. The β-thalassemia primary treatment includes blood transfusion and iron chelation therapy; however, both are associated with risks such as anemia, iron deplet...
Background/Objectives: Chronic anemia and iron overload in thalassemia lead to organ failures, including the heart, liver, endocrine glands, and spleen. Comprehensive multidisciplinary management is pivotal in improving patients’ clinical outco...
Background/Objectives: Red blood cell (RBC) alloimmunization is a significant challenge in transfusion medicine, particularly among transfusion-dependent patients, such as those with thalassemia. It arises from the production of antibodies against no...
Background/Objective: Patients with beta-thalassemia are more susceptible to iron overload and have altered neutrophil function. This study investigated the connections between iron metabolism in neutrophils, neutrophil functionality, and overall iro...
Thalassemia and sickle cell disease remain the most common life-threatening non-communicable diseases in children worldwide and an increasing burden on affected families and health services. Significant progress has been made in terms of technologies...
Thalassemia, a genetic condition characterized by defective hemoglobin synthesis, is often managed with transfusion therapy, which can lead to iron overload—a significant contributor to morbidity and mortality due to organ damage and pathogenic...
It is important to recognize the significance of acute painful transfusion reactions (APTRs) as a complication of blood transfusions. These adverse reactions are characterized by the onset of acute pain after the administration of blood components. D...
Introduction: Generally, microcytic anaemia is caused by sideropenia or a genetic gap. The suspicion that microcytic anaemia is caused by a genetic gap must always be considered in the face of an inadequate response to martial therapy. The aim of thi...
Background: Thalassemias are a group of autosomal recessive disorders and the most common inherited disease worldwide. Fetal hemoglobin (HbF) is the main oxygen carrier protein in the human fetus. Elevated HbF level is known to ameliorate the severit...
Thalassemia represents a diverse group of inherited hematological disorders characterized by defective globin chain synthesis, leading to chronic anemia and associated complications. The complicated pathophysiology of beta-thalassemia involves geneti...
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 induc...
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...
β-thalassemia, a life-threatening inheritable hemoglobin disorder caused by mutations in the HBB gene, poses a significant public health challenge in the world. Although no comprehensive work has been carried out in Bangladesh, the world prevale...
The mutation HBA2:c.*94A>G (AATAAA>AATAAG; rs63751269) is a 3′-UTR (3 prime untranslated region) single-nucleotide substitution in the polyadenylation (PA) signal of HBA2 (αPA:A→G). This pathogenic (CADD score, 14.92) variant i...
Thalassemia a common hereditary blood disorder resulting in anemia. It is an important public health problem, with a high prevalence in Southeast Asia and Mediterranean countries, and preventable through screening programs. However, due to its chroni...
Extramedullary hematopoiesis (EMH) serves as a compensatory mechanism in chronic hemolytic anemias, such as thalassemia, and can result in spinal cord compression. This case report highlights a 36-year-old woman with transfusion-dependent β-thalassem...
In patients with sickle cell disease (SCD), transfusions pose risks like delayed hemolytic transfusion reaction (DHTR) and hyperhemolytic syndrome (HHS). We present the case of a 61-year-old Nigerian male patient with SCD, developing hyperhemolytic s...
Thalassemia is a hereditary hemolytic anemia that is prevalent in Southeast Asia. The primary treatment for severe thalassemia involves red cell transfusion, iron chelation, and the treatment of long-term complications, leading to frequent hospital v...
Thalassemia treatment still relies on supportive care, mainly including blood transfusion and iron chelation therapy. Iron chelation is considered the main factor responsible for the marked improvement in survival rates of thalassemic patients. Hemos...
Indonesia is a large island country with a wide variety of ethnic groups. As part of the thalassemia country belt, Indonesia has alleles that are as distinctive as those found in other parts of Southeast Asia. The journey of ancestors in the prehisto...
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