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

More general terms

• familial erythrocytosis

Database

• OMIM: https://mirror.omim.org/entry/609820