Somatic mutation in paroxysmal nocturnal hemoglobinuria

Hosp Pract (1995). 1997 Sep 15;32(9):125-31, 135-6, 139-40. doi: 10.1080/21548331.1997.11443565.

Abstract

The mutation, occurring in a hematopoietic stem cell, creates an erythrocyte clone deficient in proteins capable of blocking complement-mediated lysis. The precise defect lies, however, in the biosynthesis of anchors to tether the proteins. Future research may explain how the clone gains a growth advantage (perhaps shedding light on aplastic anemia). Meanwhile, there remains the challenge of optimal diagnosis and management.

Publication types

  • Review

MeSH terms

  • Erythrocytes*
  • Gene Deletion
  • Glycosylphosphatidylinositols / biosynthesis
  • Glycosylphosphatidylinositols / genetics*
  • Hemoglobinuria, Paroxysmal / complications
  • Hemoglobinuria, Paroxysmal / genetics*
  • Humans
  • Leukemia / etiology
  • Membrane Proteins / genetics*
  • Mutation / genetics*

Substances

  • Glycosylphosphatidylinositols
  • Membrane Proteins
  • phosphatidylinositol glycan-class A protein