A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for alpha(+)-thalassaemia and a mutation in alpha1 globin gene CD59 (GGC --> GAC).

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.

• 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)

Chemical References

• alpha-Globins

Topics

• Chromatography, High Pressure Liquid
• Heterozygote
• Humans
• Male
• Middle Aged
• Point Mutation
• alpha-Globins (genetics)
• alpha-Thalassemia (genetics)