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Familial erythrocytosis, 1

Familial erythrocytosis-1 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998). Genetic Heterogeneity of Familial Erythrocytosis See also ECYT2 (263400), caused by mutation in the VHL gene (608537) on chromosome 3p25; ECYT3 (609820), caused by mutation in the EGLN1 gene (606425) on chromosome 1q42; and ECYT4 (611783), caused by mutation in the EPAS1 gene (603349) on chromosome 2p. Erythrocytosis may also be caused by somatic mutation in the JAK2 (147796) or the SH2B3 (605093) gene on chromosome 9p24 and 12q24, respectively. For a review of the genetics of congenital erythrocytosis, see Bento et al. (2014). [from OMIM]

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Erythroid hyperplasia

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