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)

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)

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...

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Veröffentlicht in:Medical journal of Malaysia 2009-12, Vol.64 (4), p.321-322
Hauptverfasser: George, E, Jama, Tan, Azian, A S Nor, Rahimah, A, Zubaidah, Z
Format: Artikel
Sprache:eng
Schlagworte:
alpha-Globins - genetics
alpha-Thalassemia - genetics
Chromatography, High Pressure Liquid
Heterozygote
Humans
Male
Middle Aged
Point Mutation
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Zusammenfassung: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.
ISSN:0300-5283