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Hb Hekinan in a Taiwanese Subject: A G→T Substitution at Codon 27 of the α1-Globin Gene Abolishes anHaeIII Site

Authors :
Tien-Jye Chang
Jan-Gowth Chang
Yu-Chang Chang
Ching-Tien Peng
Hung-Chang Shih
Mu-Chin Shih
Source :
Hemoglobin. 31:495-498
Publication Year :
2007
Publisher :
Informa UK Limited, 2007.

Abstract

We recently observed a heterozygote for Hb Hekinan in a Taiwanese subject. The molecular lesion of Hb Hekinan is a substitution of G--T at codon 27 of the alpha1-globin gene, which abolishes an HaeIII restriction enzyme site. Hb Hekinan [alpha27(B8)Glu--Asp, GAG--GAC (alpha2)] has not been found in Taiwan. This variant can be detected by high performance liquid chromatography (HPLC) but not by capillary or cellulose electrophoresis.

Details

ISSN :
1532432X and 03630269
Volume :
31
Database :
OpenAIRE
Journal :
Hemoglobin
Accession number :
edsair.doi.dedup.....bead8c39e94ef9778948708c11bafc16