In this study we have carried out aand -globin gene analysis and defined the fl-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the j9-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We ...

Coexistence of thalassemia, hemoglobinopathies and malaria has interested geneticists over many decades. The present study represents such a population from the eastern Indian state of Orissa. Children and their siblings (n=38) were genotyped for β-thalassemia mutations and genotype-phenotype correlation was determined. The major genotype was IVS 1.5 mutation: 26% homozygous (n=10) and 37% (n=1...

Thromboembolic events and hypercoagulable state have been reported in patients with thalassemia. As platelets play an important role in the pathogenesis of thrombosis, the authors aimed to find the pattern of changes in platelet count, function and activation, and evidence of coagulation activation in patients with thalassemia major in Indonesia. A total of 31 patients with splenectomized and 3...

background: expansion of bone marrow cavity and decreased cortical and trabecular bone tissues and osteoporosis are resulted from beta-thalassemia. the aim of this study was to assess bone mineral density (bmd) in patients with β thalassemia major and intermedia, and to determine their biochemical and hormonal profiles that may affect bmd. materials and methods: in a cross sectional study from ...

background: β-thalassemia major is a hereditary life threatening anemia which requires regular blood transfusion. clinical symptoms of the disease are growth retardation, pallor, jaundice and skeletal alternations. the variety of bone disease in thalassemia major is manifested by diffuse bone pain or deformity, spontaneous and pathologic fractures and osteopenia or osteoporosis. this study aime...

Background Thalassemia is a common hereditary anemia in humans, and beta thalassemia represents a group of recessively inherited hemoglobin disorders first described by Cooley and Lee and characterized by the abnormal synthesis of β-globin chain. The homozygous state results in severe anemia, which needs regular blood transfusion. Although such treatments increase the patient's life span, a var...

Background: Expansion of bone marrow cavity and decreased cortical and trabecular bone tissues and osteoporosis are resulted from beta-thalassemia. The aim of this study was to assess bone mineral density (BMD) in patients with β thalassemia major and intermedia, and to determine their biochemical and hormonal profiles that may affect BMD. Materials and Methods: In a cross sectional study from ...

BACKGROUND β-Thalassemia is the most prevalent genetic disorder in India. Its traits and coinheritance vary from mild to severe conditions, resulting in thalassemia minor, intermediate, and major, depending upon many factors. PURPOSE The objective of this study was to identify the incidence of β-thalassemia traits, their coinheritance, and mutations, as well as to support the patients already...