Paroxysmal nocturnal haemoglobinuria

external

• Synonyms

  • PNH
  • Marchiafava-Micheli syndrome
  • Phosphatidylinositol glycan class A gene mutation
  • Glycosyl-phosphatidylinositol deficit
  • PIGA gene mutation
  • GPI deficit

• Causes

  • PIGA gene mutation

• Effects

  • Intravascular haemolysis
  • Venous thrombosis
  • Decreased platelet production
  • Pancytopaenia
  • Positive Ham's test
  • Hepatic vein thrombosis

• Parents

  • X-linked recessive disorder
  • Haematological pathology

• Description

  • "Haemopoietic stem cell disease Acquired sensitivity to complement destruction"