Hb Hekinan Observed in Three Chinese from Macau; Identification of the Gag→Gat Mutation in the αl-Globin Gene

Abstract

Hb Hekinan, an α chain variant that is characterized by a Glu←Asp mutation at position α 27, was observed in three Chinese females attending a prenatal clinic in Macau. The relative quantities of the stable hemoglobin were 13-14% (average 13.3%); its identification was greatly aided by the separation and purification of the peptides by reversed phase high performance liquid chromatography. Dot-blot analysis of amplified DNA with ³²p-labeled probes located the mutation in codon 27 of the minor α1-globin gene; the change involved a GAG (coding for glutamic acid) to GAT (coding for aspartic acid) mutation.