- somatic mutation in the phosphatidylinositol glycan-A gene on X chromosome
- aplastic anemia like syndrome in which red cells are predisposed to complement lysis causing hemolytic anemia
- deficient GPI (glycophosphatidylinositol) anchored membrane proteins (CD55, CD59)
- presents with hemoglobinuria and venous thrombosis (eg:Budd Chiari thrombosis)
- immunophenotyping : absence of CD55 (decay accelerating factor) /CD59 (membrane inhibitor or reactive lysis)
- HAM test or flow cytometric evaluation of blood is diagnostic test.
- treatment: plasma reduced washed red cells (correct anemia), warfarin, eculizumab (new monoclonal antibody which inhibit complement system)
- significant proportion of patient go on to develop aplastic anemia or acute leukemia
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