Abstract |
A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation in the alpha1-globin gene CD59 (GGC --> GAC) and a deletion alpha+ (-alpha(3.7)) 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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Authors | E George, Tan Jama, A S Nor Azian, A Rahimah, Z Zubaidah |
Journal | The Medical journal of Malaysia
(Med J Malaysia)
Vol. 64
Issue 4
Pg. 321-2
(Dec 2009)
ISSN: 0300-5283 [Print] Malaysia |
PMID | 20954559
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Chromatography, High Pressure Liquid
- Heterozygote
- Humans
- Male
- Middle Aged
- Point Mutation
- alpha-Globins
(genetics)
- alpha-Thalassemia
(genetics)
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