Congenital and inherited polycythemia

Curr Opin Pediatr. 2000 Feb;12(1):29-34. doi: 10.1097/00008480-200002000-00006.

Abstract

Absolute polycythemia is a condition with increased red blood cell mass. There are a number of primary and secondary polycythemic disorders leading to absolute polycythemia. Primary polycythemias are caused by a defect intrinsic to the erythroid progenitor cells. The best characterized primary polycythemia is the autosomal dominant primary familial and congenital polycythemia (PFCP). Familial or childhood occurrence of the myeloproliferative disorder polycythemia vera are also discussed, emphasizing the importance of distinction between polycythemia vera and PFCP. Congenital or familial secondary polycythemic conditions are characterized by increased red cell mass, which is caused by circulating serum factors, typically erythropoietin.

Publication types

  • Review

MeSH terms

  • 2,3-Diphosphoglycerate / metabolism
  • Adult
  • Bisphosphoglycerate Mutase / deficiency
  • Child
  • Erythropoietin / blood
  • Hemoglobins, Abnormal
  • Humans
  • Methemoglobinemia / diagnosis
  • Methemoglobinemia / physiopathology
  • Polycythemia* / congenital
  • Polycythemia* / diagnosis
  • Polycythemia* / genetics
  • Polycythemia* / physiopathology

Substances

  • Hemoglobins, Abnormal
  • Erythropoietin
  • 2,3-Diphosphoglycerate
  • Bisphosphoglycerate Mutase