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Paroxysmal nocturnal haemoglobinuria: Nature's gene therapy?

¹ Department of Haematology, Birmingham Heartlands Hospital, Bordesley Green East, Birmingham B9 5SS, UK
² Haematological Malignancy Diagnostic Service, The General Infirmary at Leeds, Great George Street, Leeds LS1 3EX, UK

Correspondence to:
Dr R J Johnson, Birmingham Heartlands Hospital, Bordesley Green East, Birmingham B9 5SS, UK;
johnsonr{at}heartsol.wmids.nhs.uk

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.

Keywords: paroxysmal nocturnal haemoglobinuria; PIG-A gene; aplastic anaemia

Abbreviations: AA, aplastic anaemia; ER, endoplasmic reticulum; GPI, glycosyl phosphatidylinositol; GlcNAc, N-acetylglucosamine; PEA, phosphoethanolamine; PI, phosphatidylinositol; PNH, paroxysmal nocturnal haemoglobinuria; VSG, variant surface glycoprotein

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