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Hemoglobin. 2005;29(2):91-106.

Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts.

Author information

1
INSERM U654, Bases Moléculaire et Cellulaires des Malades Génétiques, Hôpital Henri Mondor, Créteil, France. Henri.Wajcman@im3.inserm.fr

Abstract

This review brings some new insights on erythrocytosis of genetic origin related to problems of oxygen delivery by hemoglobin (Hb). A few molecular mechanisms are individualized among the about 100 Hb variants that cause compensatory erythrocytosis. The most frequently observed structural modifications are localized in the alpha1beta2 interface, or at the C-terminal. They impair formation of a stable T state. Others mutations modify directly or indirectly the surrounding of the heme and the site where oxygen binds. A special interest is brought to the dose effect considering the possibility for formation of hybrid tetramers with altered oxygen binding properties. Homozygous cases, and patients who are compound heterozygotes for a high oxygen affinity Hb and a thalassemia (thal), are discussed. Several examples are provided, specially documented for Hb Olympia [beta20(B2)Val --> Met] and Hb Saint Nazaire [beta103(G5)Phe --> Ile]. Other mechanisms leading to erythrocytosis are discussed, and finally, an algorithm is proposed for etiological diagnosis.

PMID:
15921161
[Indexed for MEDLINE]

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