Ten patients with thalassemia intermedia with variable severity and apparent simple heterozygosis for beta0 39 C>T nonsense mutation were submitted to clinical, hematologic and molecular studies. The presence of an unknown molecular defect (silent beta-thalassemia) unlinked to the beta cluster interacting with the heterozygous beta thalassemia, was previously postulated in these families. Analy...

OBJECTIVE Changing patterns of immigration to North America, along with improved treatment, have altered the clinical spectrum of thalassemia, one of the world's most common genetic diseases. The new demography of the disease, with its widely variable phenotypes, has implications for its diagnosis, counseling, and management. Characterization of the new spectrum of this ancient disease, now pre...

background: heart disease is the main cause of mortality and morbidity in patients with beta thalassemia, rendering its early diagnosis vital. we studied and compared echocardiographic findings in patients with beta thalassemia major, patients with beta thalassemia intermedia, and a control group. methods: eighty asymptomatic patients with thalassemia major and 22 asymptomatic cases with thalas...

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...