A Rare Case of Alpha-Thalassaemia Intermedia in a Malay patient double heterozygous for a+-Thalassaemia and a mutation in a1 Globin Gene CD59 (GGC GAC)

Authors

• E. George
• J. TanFollow
• A.S.N. Azian
• A. Rahimah
• Z. Zubaidah

Document Type

Article

Publication Date

1-1-2009

Abstract

A rare case of thalassaemia-intermedia involving a nondeletion 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.

Keywords

Alpha-thalassaemia intermedia, Non-deletion α1 globin gene CD59, Deletion -α 3.7, HPLC, Molecular analysis.

Publication Title

Medical Journal of Malaysia

ISSN

0300-5283

Recommended Citation

George, E.; Tan, J.; Azian, A.S.N.; Rahimah, A.; and Zubaidah, Z., "A Rare Case of Alpha-Thalassaemia Intermedia in a Malay patient double heterozygous for a+-Thalassaemia and a mutation in a1 Globin Gene CD59 (GGC GAC)" (2009). Research Publications (2006 to 2010). 2238.
https://knova.um.edu.my/research_publications_2006_2010/2238

Divisions

fac_med

Volume

64

Issue

4

Publisher

Malaysian Medical Association

Additional Information

Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA