Molecular basis of a-thalassaemia

  • J. Traeger-Synodinos | paola.granata@pagepress.org Assistant Professor of Genetics, Medical Genetics, University of Athens, St. Sophia’s Children’s Hospital, Athens, Greece.

Abstract

a-thalassaemias is an autosomal recessive disorder, in which there is impaired production of the a-globin chains of haemoglobin. It is associated with microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia. It is probably the most common single gene disorder worldwide, and is especially frequent in populations originating from the Mediterranean region, SE Asia, Africa, Middle East and Indian subcontinent.

 

地中海贫血是一种常染色体隐性遗传病,其中产生对血红蛋白的珠蛋白链的损害。 它与血红蛋白过少性贫血和临床显型(不同于几乎无症状至致命的溶血性贫血)想关联。 它可能是世界上最常见的单基因疾病,尤其常见于来自地中海区域、东南亚、非洲、中东和印度次大陆的人群。

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Published
2011-12-30
Keywords:
thalassemia, molecular basis.
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How to Cite
Traeger-Synodinos, J. (2011). Molecular basis of a-thalassaemia. Thalassemia Reports, 1(1), e13. https://doi.org/10.4081/thal.2011.s2.e13