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

被引：12

作者：

Fucharoen, S ^{[1
]}

Singsanan, S

Sanchaisuriya, K

Fucharoen, G

机构：

[1] Khon Kaen Univ, Fac Associated Med Sci, Dept Clin Chem, Khon Kaen 40002, Thailand

[2] Khon Kaen Univ, Fac Associated Med Sci, Dept Clin Microscopy, Khon Kaen 40002, Thailand

[3] Khon Kaen Univ, Grad Sch, Khon Kaen 40002, Thailand

[4] Khon Kaen Univ, Ctr Res & Dev Med Diagnost Labs, Khon Kaen 40002, Thailand

来源：

CLINICAL AND LABORATORY HAEMATOLOGY | 2005年 / 27卷 / 03期

关键词：

Hb E; Hb Pyrgos; Hb J Bangkok; Multiplex-allele-specific PCR; beta-globin haplotype;

D O I：

10.1111/j.1365-2257.2005.00665.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe haematological and DNA characterization of haemoglobinopathies in Thai adolescents caused by compound heterozygosities for Hb E [beta 26(B8) Glu-Lys] and two other beta-globin chain variants, Hb Pyrgos [beta 83(EF7) Gly-Asp] and Hb J Bangkok [beta 56(D7) Gly-Asp]. Hb analysis demonstrated that although these two beta-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. beta-Globin gene haplotypes linked to these two beta-chain variants and a simple DNA testing based on multiplex allele-specific polymerized chain reaction for differential diagnosis are presented.

引用

页码：184 / 189

页数：6