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familial erythrocytosis type 1
- Genetics:
- autosomal dominant
- associated with gain of function defects in EPOR
Clinical manifestations:
- relatively benign course
- does not progress to leukemia
Laboratory:
- complete blood count shows
a) increased serum red blood cell mass
b) elevated hemoglobin & hematocrit
c) no increase in platelets nor leukocytes
- hypersensitivity of erythroid progenitors to erythropoietin
- low serum erythropoietin
General
familial erythrocytosis
Database Correlations
OMIM 133100
References
UniProt :accession P19235