A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia
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چکیده
منابع مشابه
A novel mutation in the TATA box in a Japanese patient with beta +-thalassemia.
A single base substitution (A-G) at position -31 within the highly conserved proximal promoter element, the TATA box, was identified in the beta-globin gene cloned from a Japanese woman with beta +-thalassemia. It appears that she is homozygous for this specific allele, as determined by haplotype analysis using seven different polymorphic sites in the beta-globin gene cluster. Transient express...
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Hepatic calcification is usually associated with infectious, vascular, or neoplastic processes in the liver. We report the first case of beta-thalassemia major with isolated diffuse hepatic calcification in a 23 year old woman, who had been transfusion-dependent since the age of 6 months. She was referred to our center with a chief complaint of abdominal pain. Computed tomography scan of the ab...
متن کاملWatershed Infarct in Beta-Thalassemia Major Patient
Background. The mechanism of stroke in beta-thalassemia was reported previously as cardioembolic and hypercoagulable state. However, there is no report of watershed infarct in beta-thalassemia anemia. Method. We present an adult β-thalassemia major patient with manifest asymptomatic chronic left carotid occlusion who suffered watershed infarct. Result. In the presence of asymptomatic chronic le...
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Extramedullary hematopoiesis (EMH) is a physiological compensatory phenomenon occurring in many hemolytic anemias including thalassemia. Besides transfusion, radiotherapy, surgery or a combination of these modalities, hydroxyurea (HU) as an optimal treatment has been described occasionally. We described a case of beta-thalassemia major who has been on regular blood transfusion and developed EMH...
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ژورنال
عنوان ژورنال: Egyptian Journal of Medical Human Genetics
سال: 2018
ISSN: 1110-8630
DOI: 10.1016/j.ejmhg.2017.08.006