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Familial or hereditary erythrocytosis is a rare disorder of red cell production that can be inherited in either an autosomal dominant or recessive fashion. In this perspective article, Drs. Percy and Lee illustrate how identification of molecular lesions as the basis of erythrocytosis has provided a compelling correlation with, and indeed, physiological validation of proteins implicated in the pathway that senses oxygen and signals to erythropoiesis. Very interestingly, they show that all of the major elements in the oxygen sensing pathway have now been accounted for in the current OMIM classification of familial erythrocytoses. See related articles on pages 1068 and 1072.

Familial erythrocytosis: molecular links to red blood cell control