Although β-thalassemia is one of the most common human genetic diseases, there is still no effective treatment other than bone marrow transplantation. Induced pluripotent stem cells have been considered good candidates for the future repair or replacement of malfunctioning organs. As a basis for developing transgenic induced pluripotent stem cell therapies for thalassemia, β(654) induced plurip...

BACKGROUND Infection is one of the most common causes of death in β-thalassemia patients. This may be due in part to an underlying immunological abnormality. During the past decade, a subset of CD3+ T cells that express both CD4+CD8+ (DP) T-cells were discovered and have been described in several pathological conditions. However, phenotypic characterization of this unique T-lymphocyte subset in...

Hemoglobin E (HbE) β-thalassemia is the most common severe thalassemia syndrome across Asia, and millions of people are carriers. Clinical heterogeneity in HbE β-thalassemia is incompletely explained by genotype, and the interaction of phenotypic variation with hepcidin is unknown. The effect of thalassemia carriage on hepcidin is also unknown, but it could be relevant for iron supplementation ...

Beta thalassemia is an inherited disorder resulting in abnormal or decreased production of hemoglobin, leading to hemolysis and chronic anemia. The long-term complications can affect multiple organ systems, namely the liver, heart, endocrine. Myocardial iron overload a common finding β-thalassemia. As result, different cardiovascular form cardiomyopathy, pulmonary hypertension, arrhythmias, vas...

β-thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutations (HBB gene). Most cases are inherited from parents who both have diseased alleles of the HBB gene. We report a patient with late-onset β-thalassemia major that evolved from β-thalassemia minor in which only one of her parents had the diseased HBB gene. To study the cause of β-thalassemia majo...

Background: β-thalassemia minor is characterized by reduced β-haemoglobin chain synthesis and sometimes mild anaemia, although carriers of β-thalassemia minorare usually clinically asymptomatic.Nonspecific abdominal complaints may be caused by gastrointestinal carbohydrate malabsorption (lactose and fructose) and/or malabsorption of biogenic amines (histamine), or proteins (gluten). Objectives:...

Genome editing (GE) is one of the most efficient and useful molecular approaches to correct effects gene mutations in hereditary monogenetic diseases, including β-thalassemia. CRISPR-Cas9 has been proposed for effective correction β-thalassemia mutation, obtaining high-level “ de novo ” production adult hemoglobin (HbA). In addition primary causing β-thalassemia, several reports demonstrate tha...

introduction: beta thalassemia is the most common inherited bloody disorder, affecting synthesis of the beta globin chain of hemoglobin. the type of β-thalassemia mutation affects on the β-globin chain synthesis that appears as β ° ، β + and β ++ -thalassemia. the presence of xmni polymorphic site at the 5 َ region of the g γ-globin gene affects on the rate of g γ chain synthesis and in some con...

background: we aimed to determine the incidence of co-inheritance as well as interaction of sickle cell trait (sct) and α thal /β thal mutations in south and south central of iran. method: we employed a pcr and restriction fragment length polymorphism techniques to confirm diagnosis of sickle cell trait. all subjects were screened for any α/β -thalassemia mutations using a gap-polymerase chain ...

631 Background and Objectives. Ferrokinetic studies and erythroid cell ultrastructural studies have indicated some degree of ineffective erythropoiesis in heterozygous β-thalassemia, although a wide case-to-case variation was observed. In this study we applied rapid biochemical and hematologic measurements to assess erythroid marrow activity (sTfR) and reticulocyte hemoglobin content (CHr) in i...