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Paroxysmal nocturnal haemoglobinuria 

Paroxysmal nocturnal haemoglobinuria

Chapter:
Paroxysmal nocturnal haemoglobinuria
Author(s):

Lucio Luzzatto

DOI:
10.1093/med/9780199204854.003.220312
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date: 28 April 2017

Paroxysmal nocturnal haemoglobinuria (PNH) is a unique disorder in which a substantial proportion of the patient’s red cells have an abnormal susceptibility to activated complement. This results from the presence of a clone that originates from a haematopoietic stem cell bearing an acquired somatic mutation in the X-linked gene PIGA , required for the biosynthesis of the glycanphosphatidylinositol molecule which anchors many proteins to the cell membrane, including the complement regulators CD59 and CD55. Clinical features and diagnosis—the ‘classical’ presentation is with ‘passing blood instead of urine’ (haemoglobinuria). Sometimes the patient presents with the full triad of (1) haemolytic anaemia, (2) pancytopenia, and (3) thrombosis—most commonly of intra-abdominal veins. An element of bone marrow failure is always present; and sometimes the disease may be preceded by or may evolve to bone marrow aplasia indistinguishable from acquired aplastic anaemia. Definitive diagnosis is based on demonstrating the presence of a discrete population of ‘PNH red blood cells’ by flow cytometry using anti-CD59.

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