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 --&gt; GAC)

George, E.; Jama, T.; Azian, A.S.N.; Rahimah, A.; Zubaidah, Z.; George, E; Jama, T; Azian, A.S.N; Rahimah, A; Zubaidah, Z

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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)

George, E.; Jama, T.; Azian, A.S.N.; Rahimah, A.; Zubaidah, Z.

Medical Journal of Malaysia 64(4): 321-322

2009

ISSN/ISBN: 0300-5283

PMID: 20954559

Document Number: 634385

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.