Literature DB >> 20954559

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).

E George1, Tan Jama, A S Nor Azian, A Rahimah, Z Zubaidah.   

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.

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Year:  2009        PMID: 20954559

Source DB:  PubMed          Journal:  Med J Malaysia        ISSN: 0300-5283


  1 in total

1.  DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia.

Authors:  Jin Ai Mary Anne Tan; Siew Leng Kho; Chin Fang Ngim; Kek Heng Chua; Ai Sim Goh; Seoh Leng Yeoh; Elizabeth George
Journal:  Sci Rep       Date:  2016-06-08       Impact factor: 4.379

  1 in total

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