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Hemoglobin
international journal for hemoglobin research
Volume 15, 1991 - Issue 1-2
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Original Article

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

, , , , , , & show all
Pages 43-51 | Received 27 Jun 1990, Accepted 14 Dec 1990, Published online: 07 Jul 2009
 

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.

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