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Review
Paroxysmal nocturnal haemoglobinuria: Nature's gene therapy?

Abstract

The development of paroxysmal nocturnal haemoglobinuria (PNH) requires two coincident factors: somatic mutation of the PIG-A gene in one or more haemopoietic stem cells and an abnormal, hypoplastic bone marrow environment. When both of these conditions are met, the fledgling PNH clone may flourish. This review will discuss the pathophysiology of this disease, which has recently been elucidated in some detail.

  • paroxysmal nocturnal haemoglobinuria
  • PIG-A gene
  • aplastic anaemia
  • AA, aplastic anaemia
  • ER, endoplasmic reticulum
  • GPI, glycosyl phosphatidylinositol
  • GlcNAc, N-acetylglucosamine
  • PEA, phosphoethanolamine
  • PI, phosphatidylinositol
  • PNH, paroxysmal nocturnal haemoglobinuria
  • VSG, variant surface glycoprotein

https://doi.org/10.1136/mp.55.3.145

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