introduction: hypoparathyroidism (hpt) is an irreversible but preventable disorder caused by an iron overload which can be considered a typical complication in patients with beta-thalassemia major. patients and method: parathyroid function was evaluated in 130 patients in qom, iran, who suffered from beta-thalassemia major. their serum ferritin levels were checked for monitoring of chelation th...

abstract background the aim of the present study was to determine the endocrine dysfunction in patients with major thalassemia, who receive hyper transfusion. materials and methods this cross sectional study was performed during one year, which included 65 major thalassemia patients (31 females and 34 males), aged between 14 month to 27 years old (median 10,3). growth assessment was measured by...

background recent studies regarding the effect of hydroxyurea (hu) in thalassemia have revealed favorable effects on the reduction of ineffective erythropoiesis. objectives the aim of the current study was to evaluate whether or not hu can have an effect on the gallstone formation rate in patients with beta-thalassemia intermedia (bti). patients and methods in this case control cross-sectional ...

background: beta-thalassemia is considered to be the most frequent hereditary blood disorder worldwide. lipid abnormalities have been detected in different types of beta-thalassemia . the aim of this study is to assess the lipid profiles in beta-thalassemia major (btm) and beta-thalassemia intermedia (bti) patients in southern iran. methods: the study group consisted of 55 btm patients and 50 b...

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...

Eight thousand seven hundred and thirty-six pregnant women were screened for thalassemia and hemoglobinopathies by mean corpuscular volume less than 80 femtolitres (fl). Three thousand six hundred and seventy women (42%) were MCV less than 80 fl. In this group there were 2,390 women (70%) who had positive Hb typing by high performance liquid chromatography (HPLC) such as beta-thalassemia major,...

We report a retrospective analysis carried out on 23,485 subjects submitted to a screening program from 2000 to 2006. Of these subjects, 3,934 had borderline HbA(2) values from 3.1 to 3.9%; 410 samples, analyzed previously using PCR methods and sequencing because all of these were partners of a carrier of classical beta-thalassemia, were selected for statistical analysis. Of 410 subjects, 94 (2...

In Ontario, Canada, beta-thalassemia is easily detected through measurement of hemoglobin A2, but most laboratories do not do exhaustive DNA investigations for alpha-thalassemia. Therefore, the prevalence of thalassemia in microcytic samples for hemoglobinopathy investigation in Ontario is unknown. To address this, we performed a prospective cohort study in which samples referred for hemoglobin...