In many Asian populations, the commonest form of severe thalassemia results from the coinheritance of HbE and beta thalassemia. The management of this disease is particularly difficult because of its extreme clinical diversity; although some genetic and adaptive factors have been identified as phenotypic modifiers, the reasons remain unclear. Because the role of the environment in the course of...

We have analyzed a cloned beta O-thalassemia (beta O-thal) gene from a patient doubly heterozygous for hemoglobin Lepore and beta O-thalassemia. Studies of 3H-uridine incorporation into beta-globin mRNA in this patient's erythroblasts suggested an intranuclear defect in both beta and Lepore (delta beta) mRNA synthesis, as did S1 nuclease analysis of nuclear RNA. However, the nucleotide sequence...

OBJECTIVE To review the reproductive health knowledge, attitudes, and behaviors of persons with homozygous beta-thalassemia. DESIGN Case-control study. SETTING Patients treated at a tertiary hospital and community-based healthy controls. PARTICIPANT(S) One hundred and thirty persons, 16 years of age or older, who had homozygous beta-thalassemia and were attending hospital for regular bloo...

We investigated the molecular basis for a mild phenotype in a group of patients with beta(+) thalassemia originating from Northern Sardinia by definition of the beta-thalassemia mutation, alpha-globin mapping and beta-globin haplotype determination. In nine patients, we detected the compound heterozygous state for the -87 promoter mutation and the codon 39 nonsense mutation; in one patient, we ...

background: thalassemia represents a serious health problem in iran because of its heterogeneous frequency and the existing endogamy system. it is an inherited blood disease characterized by the under production of normal hemoglobin, the oxygen-carrying protein in red blood cells. materials and methods: in this study, serum antioxidants including selenium (se), zinc (zn) and copper (cu) were me...

background beta-thalassemia patients receive blood products from blood transfusion centers repeatedly. blood transfusion can transmit cytomegalovirus (cmv) and toxoplasma gondii. the aim of this study was serological evaluation of these two infectious agents in thalassemia patients. materials and methods in a cross-sectional study, the enzymelinked immunosorbent assay (elisa) testing was perfor...

Beta thalassemia major is an inherited disease resulting from reduction or total lack of beta globin chains. Patients with this disease need repeated blood transfusion for survival. This may cause oxidative stress and tissue injury due to iron overload, altered antioxidant enzymes, and other essential trace element levels. The aim of this review is to scrutinize the relationship between oxidati...

The geographical distribution of Alpha and Beta-Thalassemias differ markedly. Alpha-Thalassemia being particularly prevalent in Southeast Asia and Beta-Thalassemia in the Mediterranean basin. Thalassemia syndromes are common in Saudi Arabia: the Beta-Thalassemia genes occur with variable frequency in different regions of Saudi Arabia and both B+ and Bo thalassemia have been reported. Alpha-Thal...