Literature DB >> 16840232

Molecular diagnosis of a case of Hb Phnom Penh [alpha117(GH5)Phe-I1e-alpha118(H1)Thr (alpha1)].

Rock Y-Y Leung1, Edmond S-K Ma, Amy Y-Y Chan, Eudora Y-D Chow.   

Abstract

We report the first case of Hb Phnom Penh where a molecular study was done on the patient's sample. The result confirmed the predicted DNA sequence change involved in the mutation, which was delineated by another group in 1998 using amino acid analysis.

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Year:  2006        PMID: 16840232     DOI: 10.1080/03630260600755906

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  1 in total

1.  A rare haemoglobin variant (Hb Phnom Penh) manifesting as a falsely high haemoglobin A1c value on ion-exchange chromatography.

Authors:  Chi-Fen Chen; Yen-Kuang Tai
Journal:  Singapore Med J       Date:  2014-08       Impact factor: 1.858

  1 in total

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