Hb Hekinan in a Taiwanese subject: a G-->T substitution at codon 27 of the alpha1-globin gene abolishes an HaeIII site

Hung-Chang Shih; Mu-Chin Shih; Yu-Chang Chang; Ching-Tien Peng; Tien-Jye Chang; Jan-Gowth Chang

doi:10.1080/03630260701590368

Hb Hekinan in a Taiwanese subject: a G-->T substitution at codon 27 of the alpha1-globin gene abolishes an HaeIII site

Hemoglobin. 2007;31(4):495-8. doi: 10.1080/03630260701590368.

Authors

Hung-Chang Shih¹, Mu-Chin Shih, Yu-Chang Chang, Ching-Tien Peng, Tien-Jye Chang, Jan-Gowth Chang

Affiliation

¹ Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.

PMID: 17994385
DOI: 10.1080/03630260701590368

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Substitution / genetics*
Child
Deoxyribonucleases, Type II Site-Specific / metabolism
Hemoglobins, Abnormal / chemistry
Hemoglobins, Abnormal / genetics*
Humans
Male
Point Mutation*
Taiwan
alpha-Thalassemia / genetics*

Substances

Hemoglobins, Abnormal
hemoglobin Hekinan
Deoxyribonucleases, Type II Site-Specific
GGCC-specific type II deoxyribonucleases