familial erythrocytosis type 1

Introduction

• 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
  • increased serum red blood cell mass
  • elevated hemoglobin & hematocrit
  • no increase in platelets nor leukocytes
• hypersensitivity of erythroid progenitors to erythropoietin
• low serum erythropoietin

More general terms

• familial erythrocytosis

Database

• OMIM: https://mirror.omim.org/entry/133100