منابع مشابه
Molecular Diagnostics of β-Thalassemia
A high-quality hemoglobinopathy diagnosis is based on the results of a number of tests including assays for molecular identification of causative mutations. We describe the current diagnostic strategy for the identification of β-thalassemias and hemoglobin (Hb) variants at the International Reference Laboratory for Haemoglobinopathies, Research Centre for Genetic Engineering and Biotechnology (...
متن کاملDiabetes mellitus in ß-thalassemia major patients
-thalassemia major is a disease caused by polypeptide chain synthesis disorder which is inherited as an autosomal recessive from both parents which is marked by little or no globin chain synthesis. Medication for thalassemia major patients is by repeated blood transfusions, which causes hemochromatosis. Hemochromatosis can occur in various organs including the pancreas. The aim of the st...
متن کاملPrecision medicine, technologies, and molecular diagnostics
Introduction: Genetics, cellular and molecular medicines are cutting-edge sciences and technologies that play an important role in improving human health and quality of life. In addition, medical and biological sciences have clearly shown that the onset of diseases differs from person to person due to their different genetic profiles and variations in molecular basis. Therefore, it is feasible ...
متن کاملAdaptation to anemia in hemoglobin E-ß thalassemia.
Hemoglobin E β thalassemia is the commonest form of severe thalassemia in many Asian countries. Its remarkably variable clinical phenotype presents a major challenge to determining its most appropriate management. In particular, it is not clear why some patients with this condition can develop and function well at very low hemoglobin levels. Here, we demonstrate that patients with hemoglobin Eβ...
متن کاملLipid Profile in Jordanian Children with ß-thalassemia Major
The aim of the present study was to investigate the lipid pattern in Jordanian children with Beta-thalassemia major (ß-TM). Twenty six transfusion dependent ß-TM patients, 14 males and 12 females, (mean age 9 ± 5 years) that undergo periodical blood transfusion and desferioxame as a chelating agent, were studied. Twenty controls of matched age and gender were also included in the study. ß-thala...
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ژورنال
عنوان ژورنال: Balkan Journal of Medical Genetics
سال: 2012
ISSN: 1311-0160
DOI: 10.2478/v10034-012-0021-z