Hb Hekinan observed in three chinese from macau; identification of the gag→gat mutation in the αl-globin gene

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.