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.

Divisions

fac_med

Publication Title

Medical Journal of Malaysia

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