Hb Hekinan in a Taiwanese Subject: A G→T Substitution at Codon 27 of the α1-Globin Gene Abolishes an HaeIII Site
2007
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 α1-globin gene, which abolishes an HaeIII restriction enzyme site. Hb Hekinan [α27(B8)Glu→Asp, GAG→GAC (α2)] has not been found in Taiwan. This variant can be detected by high performance liquid chromatography (HPLC) but not by capillary or cellulose electrophoresis.
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