Three Mexican Families with β thalassemia intermedia with different molecular basis
نویسندگان
چکیده
منابع مشابه
Hypothyroidism in β-Thalassemia Intermedia Patients with and without Hydroxyurea
Hydroxyurea (HU) has been successfully used in patients with β-thalassemia intermedia (β-TI). We aimed to evaluate the effect of the long-term use of HU on thyroid function in patients with β-TI. Seventy-five patients with β-TI aged≥11 years and taking HU were randomly selected during 2010 in southern Iran. Thirty-one patients with β-TI without HU were considered as a control group. Serum level...
متن کاملThe molecular basis of β-thalassemia.
The β-thalassemias are characterized by a quantitative deficiency of β-globin chains underlaid by a striking heterogeneity of molecular defects. Although most of the molecular lesions involve the structural β gene directly, some down-regulate the gene through distal cis effects, and rare trans-acting mutations have also been identified. Most β-thalassemias are inherited in a Mendelian recessive...
متن کاملHypothyroidism in β-Thalassemia Intermedia Patients with and without Hydroxyurea
Hydroxyurea (HU) has been successfully used in patients with β-thalassemia intermedia (β-TI). We aimed to evaluate the effect of the long-term use of HU on thyroid function in patients with β-TI. Seventy-five patients with β-TI aged≥11 years and taking HU were randomly selected during 2010 in southern Iran. Thirty-one patients with β-TI without HU were considered as a control group. Serum level...
متن کاملHypocholesterolemia in children and adolescents with β-thalassemia intermedia
Low plasma levels of total cholesterol (TC) with or without hypertriglyceridemia have been frequently described in a variety of hematologic disorders in which anemia is a prominent feature.2,3 It is well established that β-thalassemia is associated with changes in plasma lipids and lipoproteins. In β-thalassemia major, low cholesterol levels caused by a significant reduction of both low-density...
متن کاملβ-Thalassemia Intermedia: A Bird’s-Eye View
Beta-thalassemia is due to a defect in the synthesis of the beta-globin chains, leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. The spectrum of thalassemias is wide, with one end comprising thalassemia minor, which consists of a mild hypochromic microcytic anemia with no obvious clinical manifestations, while on the other end is thalassemia major, characterized ...
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ژورنال
عنوان ژورنال: Genetics and Molecular Biology
سال: 2019
ISSN: 1678-4685,1415-4757
DOI: 10.1590/1678-4685-gmb-2019-0032