A third instance of the high oxygen affinity variant, HB heathrow [β103(G5)phe→leu]: Identification of the mutation by mass spectrometry and by DNA analysis

Abstract

Hb. Heathrow [β103(G5)Phe→Leu] was identified in an Englishman with a life-long history of polycythemia, his father had been similarly affected. A hemoglobin variant was suspected from the high oxygen affinity of the patient's blood. The Hb Heathrow abnormal β chain was resolved from the normal β chain by high performance liquid chromatography, and the abnormal peptide and the amino acid replacement were identified by mass spectrometry. The corresponding base change (C→G at codon 103) was demonstrated by sequence analysis of the polymerase chain reaction amplified exon 2 of the genomic β-globin gene. This is only the third known instance of Hb Heathrow.