Abstract
This review brings some new insights on erythrocytosis of genetic origin related to problems of oxygendelivery by hemoglobin (Hb). A few molecular mechanisms are individualized among the about 100 Hbvariants that cause compensatory erythrocytosis. The most frequently observed structural modificationsare localized in the α1β2 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 oxygenbinds. A special interest is brought to the dose effect considering the possibility for formation of hybridtetramers with altered oxygen binding properties. Homozygous cases, and patients who are compoundheterozygotes for a high oxygen affinity Hb and a thalassemia (thal), are discussed. Several examplesare provided, specially documented for Hb Olympia [β20(B2)Val→Met] and Hb Saint Nazaire[β103(G5)Phe→Ile]. Other mechanisms leading to erythrocytosis are discussed, and finally, analgorithm is proposed for etiological diagnosis.
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