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A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC)


Citation

George, Elizabeth and Tan, Mary Anne Jin Ai and A. S., Nor Azian and Ahmad, Rahimah and Zakaria, Zubaidah (2009) A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC). Medical Journal of Malaysia, 64 (4). pp. 321-322. ISSN 0300-5283

Abstract / Synopsis

A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation in the α1-globin gene CD59 (GGC → GAC) and a deletion α+ (-α3.7) thalassaemia in which use of high performance liquid chromatography (HPLC) C-gram Hb subtype profile and DNA molecular analysis helped establish the diagnosis.


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A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC).pdf

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Additional Metadata

Item Type: Article
Divisions: Faculty of Medicine and Health Science
Publisher: Malaysian Medical Association
Keywords: Alpha-thalassaemia intermedia; Non-deletional alpha 1 globin gene CD59; Deletion-α3.7; HPLC; Molecular analysis
Depositing User: Nurul Ainie Mokhtar
Date Deposited: 22 Jun 2015 10:50
Last Modified: 30 Nov 2016 11:07
URI: http://psasir.upm.edu.my/id/eprint/12806
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