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

This is the second reported example of Hb Pierre–Benite (β90 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 indic...

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Bibliographic Details
Published in:Clinical and laboratory haematology 2001-12, Vol.23 (6), p.407-409
Main Authors: Beard, M.E.J., Potter, H.C., Spearing, R.L., Brennan, S.O.
Format: Article
Language:English
Subjects:
Female
Genetic Variation
Hemoglobins, Abnormal - analysis
Hemoglobins, Abnormal - genetics
high affinity haemoglobin
Humans
Isoelectric Focusing
mass spectrometry
Middle Aged
Polycythemia - blood
Polycythemia - diagnosis
Polycythemia - etiology
Relative polycythaemia
Spectrometry, Mass, Electrospray Ionization
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Summary:This is the second reported example of Hb Pierre–Benite (β90 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 β 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.
ISSN:0141-9854
1365-2257
DOI:10.1046/j.1365-2257.2001.00350.x