Molecular basis of a-thalassaemia

<p>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...

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Main Author: J. Traeger-Synodinos
Format: Article
Language:English
Published: PAGEPress Publications 2011-12-01
Series:Thalassemia Reports
Subjects:
Online Access:http://www.pagepressjournals.org/index.php/thal/article/view/303
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spelling doaj-d273603cdb204a0786e9a35d6170c1492020-11-25T03:39:33ZengPAGEPress PublicationsThalassemia Reports2039-43572039-43652011-12-0111e13e1310.4081/thal.2011.s2.e13100Molecular basis of a-thalassaemiaJ. Traeger-Synodinos0Assistant Professor of Genetics, Medical Genetics, University of Athens, St. Sophia’s Children’s Hospital, Athens<p>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.</p><p>&nbsp;</p><p>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。</p>http://www.pagepressjournals.org/index.php/thal/article/view/303thalassemia, molecular basis.
collection DOAJ
language English
format Article
sources DOAJ
author J. Traeger-Synodinos
spellingShingle J. Traeger-Synodinos
Molecular basis of a-thalassaemia
Thalassemia Reports
thalassemia, molecular basis.
author_facet J. Traeger-Synodinos
author_sort J. Traeger-Synodinos
title Molecular basis of a-thalassaemia
title_short Molecular basis of a-thalassaemia
title_full Molecular basis of a-thalassaemia
title_fullStr Molecular basis of a-thalassaemia
title_full_unstemmed Molecular basis of a-thalassaemia
title_sort molecular basis of a-thalassaemia
publisher PAGEPress Publications
series Thalassemia Reports
issn 2039-4357
2039-4365
publishDate 2011-12-01
description <p>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.</p><p>&nbsp;</p><p>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。</p>
topic thalassemia, molecular basis.
url http://www.pagepressjournals.org/index.php/thal/article/view/303
work_keys_str_mv AT jtraegersynodinos molecularbasisofathalassaemia
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