Molecular and haematological characterization of compound Hb E/Hb Pyrgos and Hb E/Hb J-Bangkok in Thai patients

Authors: FUCHAROEN, S.; SINGSANAN, S.; SANCHAISURIYA, K.; FUCHAROEN, G.

Source: Clinical & Laboratory Haematology, Volume 27, Number 3, June 2005 , pp. 184-189(6)

Publisher: Blackwell Publishing

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Abstract:

Summary

We describe haematological and DNA characterization of haemoglobinopathies in Thai adolescents caused by compound heterozygosities for Hb E [β26(B8) Glu-Lys] and two other β-globin chain variants, Hb Pyrgos [β83(EF7) Gly-Asp] and Hb J Bangkok [β56(D7) Gly-Asp]. Hb analysis demonstrated that although these two β-chain variants have separated elution profiles on liquid chromatography-based Hb analysis, they have similar alkaline electrophoretic mobilities on cellulose acetate electrophoresis. Haematological data associated with these two previously undescribed conditions were compared with those of pure carriers of the variants found in other unrelated Thai individuals. β-Globin gene haplotypes linked to these two β-chain variants and a simple DNA testing based on multiplex allele-specific polymerized chain reaction for differential diagnosis are presented.

Keywords: Hb E; Hb Pyrgos; Hb J Bangkok; Multiplex-allele-specific PCR; β-globin haplotype

Document Type: Research article

DOI: 10.1111/j.1365-2257.2005.00665.x

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