A third instance of the high oxygen affinity variant, Hb Heathrow [beta 103(G5)Phe- greater than Leu]: identification of the mutation by mass spectrometry and by DNA analysis.
Hb. Heathrow [beta 103(G5)Phe- greater than 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 beta chain was resolved from the normal beta 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- greater than G at codon 103) was demonstrated by sequence analysis of the polymerase chain reaction amplified exon 2 of the genomic beta-globin gene. This is only the third known instance of Hb Heathrow.
Department of Haematology, North Middlesex Hospital, London, UK.
G
G
Marsh
G
G
Marino
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Pucci
P
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Ferranti
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Malorni
J
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Kaeda
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J
Marsh
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L
Luzzatto
D000368:Aged; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification / Q000378:metabolism; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D008969:Molecular Sequence Data; D010100:Oxygen / Q000378:metabolism; D010449:Peptide Mapping; D011086:Polycythemia / Q000097:blood / Q000235:genetics*; D016133:Polymerase Chain Reaction
D006455:Hemoglobins, Abnormal; C071127:hemoglobin Heathrow; D005914:Globins; D010100:Oxygen