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familial erythrocytosis type 3
Pathology:
- increase in red blood cell mass
Genetics:
- autosomal recessive
- associated with defects in EGLN1
Laboratory:
- complete blood count (CBC)
- increase in hemoglobin & hematocrit
- normal serum erythropoietin levels
General
familial erythrocytosis
Database Correlations
OMIM 609820
References
OMIM :accession 609820