Les polyglobulies héréditaires

Abstract

Purpose. – The majority of polycythemias occurs sporadically without any other familial case. Very occasionally polycythemia finds a familial support. This work is a review of the actual knowledge about inherited polycythemias. Current knowledge and key points. – Although polycythemias linked to a anomaly of the haemoglobin affinity for oxygen are well understood (haemoglobin mutants with high oxygen affinity, 2-3 Diphosphoglycerate deficiency and methemoglobinemia), so called primary polycythemias (above all primary familial and congenital polycythemias) just begin to find an explanation for ten years (erythropoietin receptor gene mutation). Future prospects and projects. – Progressively, the part of really idiopathic polycythemias is smaller and smaller. Although most of mechanisms to explain congenital polycythemias are understood, some of them are still unresolved (Chuvash polycythemia, the majority of primary familial and congenital polycythemias).