Familial Relative Polycythaemia due to Haemoglobin Heathrow

Beard, Michael; Hamer, Janice; Brennan, S. O.; Jones, Jamie N.; Sheat, J M; Maclaurin, J. S.

doi:10.1111/j.1445-5994.1979.tb04143.x

Cited by 2 publications

(1 citation statement)

References 11 publications

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“…When they are reported, the findings may not always indicate a true polycythaemia, and this may cause difficulty in diagnosis, as in this case. Relative polycythaemia has been reported in at least two previous high affinity variants, Hb Rahere (Lorkin et al ., 1975) and Hb Heathrow (Beard et al ., 1979), although, in the initial report of Hb Heathrow (White et al ., 1973) the affected patient had a true polycythaemia as evidenced by an increase in red cell mass. The association of a high oxygen affinity haemoglobin variant with relative polycythaemia was reviewed by Stephens (1977).…”

Section: Resultsmentioning

confidence: 99%

Haemoglobin Pierre-Benite - a high affinity variant associated with relative polycythaemia

Beard

Potter

Spearing

et al. 2001

Clinical &Amp; Laboratory Haematology

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This is the second reported example of Hb Pierre--Benite (beta90 Glu-->Asp). This mutation is associated with increased oxygen affinity and polycythaemia. No instability was found and there was no charge shift detected by cellulose acetate electrophoresis at pH 8.3. The mutation was however, clearly indicated by electrospray ionization mass spectrometry (ESI MS), which showed an abnormal beta chain with a 14 Da decrease in mass. Blood volume studies documented a relative rather than a true polycythaemia and this finding has been reported in at least two other high affinity haemoglobin variants--Hb Heathrow and Hb Rahere. This finding led to delay in diagnosis because high oxygen affinity variants are conventionally considered to cause a true polycythaemia.

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Section: Resultsmentioning

confidence: 99%

Haemoglobin Pierre-Benite - a high affinity variant associated with relative polycythaemia

Beard

Potter

Spearing

et al. 2001

Clinical &Amp; Laboratory Haematology

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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

et al. 1991

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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.

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Familial Relative Polycythaemia due to Haemoglobin Heathrow

Cited by 2 publications

References 11 publications

Haemoglobin Pierre-Benite - a high affinity variant associated with relative polycythaemia

Haemoglobin Pierre-Benite - a high affinity variant associated with relative polycythaemia

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

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