An Insight into the Symptomatology of ß-Thalassaemia Major: Molecular Genetic Basis of the Disease – III

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Tahir Shamsi
saqib Ansari
Zeeshan Hussain

Abstract

Thalassaemia syndrome is a group of inherited disorders resulting in low oxygen carrying capacity; severe anaemia due to haemolysis, ineffective erythropoiesis and bone marrow expansion in the bones, liver and spleen being the causes. Globally, there are approx. 394 ß Thalassaemia mutations (excluding alpha and other variants genetic mutations) responsible for this disorder [1]. Each ethnic group has 5-6 common mutations causing ß-thalassaemia; these mutations may not be shared in other ethnic groups [2]. Some mutations result in ß+phenotype (producing some functional Hb-A while others have more severe ß0phenotype (no functional Hb-A is formed). Rare cases are caused by deletion in ß globin gene (deletion of 619 base pairs in exon-1 of ß-globin gene); found in Gujrati, Sindhi, and Memon ethnicities.

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How to Cite
1.
Shamsi T, Ansari saqib, Hussain Z. An Insight into the Symptomatology of ß-Thalassaemia Major: Molecular Genetic Basis of the Disease – III. Nat J Health Sci [Internet]. 2020Dec.28 [cited 2024Jun.17];3(1):1-2. Available from: https://ojs.njhsciences.com/index.php/njhs/article/view/97
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Editorial

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