Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main...

Mutations producing beta-thalassemia reach individual gene frequencies greater than .01 in malarial-endemic regions because beta-thalassemia trait individuals have increased genetic fitness over that of normal individuals. Exon 3 of the beta-globin gene has been relatively spared as a site of common beta-thalassemia mutations. Frameshifts caused by the loss of a single nucleotide and nonsense m...

BACKGROUND Thalassemia is a heterogeneous disorder and several genetic factors influence the severity of thalassemia. An accurate and early diagnosis of a mild thalassemia genotype helps to avoid unnecessary transfusion and its complications. The aim of this study is to identify the association between XmnI polymorphism and disease severity in patients with beta-thalassemia from northern Pakist...

The protein composition of ghosts, inside-out vesicles (IOV), and membrane skeletons (MS) of erythrocytes (RBC) from splenectomized (spx) and nonsplenectomized (non-spx) patients with beta-thalassemia major and beta-thalassemia intermedia was determined. Ghosts from spx thalassemia intermedia patients had a significant increase in their globin content (which was mostly heme reactive) and contai...

Beta-thalassemia is one of the most prevalent autosomal disorders in the world. Mutations in the HBB gene underlie deficiencies in hemoglobin production, which can interfere with oxygen delivery resulting in wide range of disease severity. Although >535 mutations have been characterized in the HBB gene, beta-thalassemia is broadly classified into three groups, based on clinical severity: beta-t...

BACKGROUND In the past two decades, a large-scale survey of hemoglobinopathies and thalassemia was carried out in mainland China, involving nearly one million people in 28 provinces. The incidences of hemoglobin (Hb) variants, alpha-thalassemia and beta-thalassemia were 0.33%, 2.64% and 0.66%, respectively. The chemical structural analysis identified 67 Hb variants. Among them, 20 are new varia...

A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: (i) beta-thalassemia mutations, (ii) the XmnI SNP, (iii) the -3.7 kb alpha-thal deletion, (iv) the tag-SNP rs 11886868 in BCL11A exon 2 and (v) the tag-SNP rs9399137 in the HBSB1L-cMYB inter-region. Multivariate analysis was performed to study the risk of Thalass...

We present a 34-year-old man with combination of beta thalassemia intermedia and coagulation factor VII deficiency who was presented with pallor and irregular nose bleeding episodes. On physical examination, he had splenomegaly and yellow sclera. Pallor and splenomegaly could be reminder of thalassemic syndromes or hemoglobinopathies including thalassemia intermedia. Association with unusual bl...

Beta thalassemia dominant results from mutations in the β globin chain gene resulting in the production of elongated, highly unstable beta globin chains. Several such mutations have been described and in a heterozygous state they may confer a phenotype more severe than that of β thalassemia trait and lead to a clinical syndrome of thalassemia intermedia and its associated complications such as ...