s : The term familial and congenital polycythemia encompasses a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass since birth and/or similar phenotype also present in relatives.
In the last 2 decades the differential diagnosis between primary and secondary familial polycythemias became more physiologically relevant as new sensitive techniques, such as accurate measurements of serum erythropoietin (S-EPO) concentration by radioimmunoassay (RIA) or ELISA, and assessment of growth of erythroid progenitor cells in vitro became available.
Consequently, correct classification of many older previous reports of familial polycythemias is difficult.
While familial secondary polycythemias due to high oxygen affinity hemoglobin mutants are not infrequent and have been well delineated in terms of molecular pathophysiology and phenotype during the last 3 decades, those secondary familial polycythemias due to 2,3 DPG deficiency are very rare.
Familial and congenital polycythemias with increased EPO concentration and normal arterial oxygen saturation and oxygen dissociation kinetics represent an intriguing group of disorders wherein the molecular lesions remain obscure ; however, in some instances a possibility of abnormal oxygen sensing pathway involving hypoxia inducible factor - 1 (HIF-1) open an intriguing yet unexplored area of hematology and biology. (...)
Mots-clés Pascal : Polyglobulie, Etiologie, Diagnostic différentiel, Epidémiologie, Article synthèse, Homme, Hémopathie, Maladie héréditaire, Polyglobulie familiale
Mots-clés Pascal anglais : Polycythemia, Etiology, Differential diagnostic, Epidemiology, Review, Human, Hemopathy, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 97-0053289
Code Inist : 002B19A02. Création : 21/05/1997.