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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 1 , Jama T 2 , Azian AS 3 , Rahimah A 4 , Zubaidah Z 5

Affiliations 

  • 1 Faculty of Medicine and Health Sciences, Universiti Putra Malaysia
  • 2 Department of Pathology, Hospital Malacca
  • 3 Unit Haematology, Institute of Medical Research
  • 4 Department of Molecular Genetics, Faculty of Medicine, Universiti of Malaya, 50600 Kuala Lumpur, Malaysia
  • 5 Unit Haematology, Institute of Medical Research
Med J Malaysia, 2009 Dec;64(4):321-2.
PMID: 20954559

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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