Paroxysmal nocturnal haemoglobinuria: nature's gene therapy?
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.
Johnson
R J
RJ
Department of Haematology, Birmingham Heartlands Hospital, Bordesley Green East, Birmingham B9 5SS, UK. johnsonr@heartsol.wmids.nhs.uk
Hillmen
P
P
D017261:Glycosylphosphatidylinositols / Q000235:genetics; D006457:Hemoglobinuria, Paroxysmal / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D006801:Humans; D016130:Immunophenotyping; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation
D017261:Glycosylphosphatidylinositols; D008565:Membrane Proteins; C080086:phosphatidylinositol glycan-class A protein