β-Thalassaemia intermedia in a Turkish girl: homozygosity for G→A substitution at +22 relative to the β-globin cap site
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چکیده
منابع مشابه
β-Thalassaemia intermedia masquerading as β-thalassaemia major.
To cite: Singh A, Varma S. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2014-207637 DESCRIPTION A 19-year-old man presented with dysmorphic facies, progressive fatigability and exertional breathlessness from the age of 15 years. On examination the patient had classical ‘Chipmunk facies’ (figure 1), short stature, delayed puberty and mild splenomegaly. X-ray of...
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15 صفحه اولAva II Site as a Marker of β-Globin Gene Polymorphism, among Normal and Sickle Cell Patients in Iran
The restriction enzyme Ava II detects the base change of the intervening sequence II (IVS II) which is used as one of the markers of β-globin gene polymorphism. This study was conducted to determine the frequency of the Ava II site on the β-globin gene among normal people and patients with sickle cell syndrome (SCS) in Iran. DNA fragments containing the IVS II region of the β-globin gene from...
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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 کاملΒ-thalassaemia Trait: Haematological Parameters
Background: β-Thalassaemia syndromes are a group of hereditary disorders characterised by a genetic deficiency in the synthesis of β-globin chains due to a defect in β-globin genes. The objective of this study was to determine the haematological features of β-thalassaemia trait (BTT), and to determine the sensitivity of Mean Corpuscular Volume (MCV), Mean Corpuscular Haemoglobin (MCH) and Mentz...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2001
ISSN: 0007-1048
DOI: 10.1046/j.1365-2141.2001.03071.x