Natural history of paroxysmal nocturnal haemoglobinuria using modern diagnostic assays

Summary Paroxysmal nocturnal haemoglobinuria (PNH) is an uncommon, acquired disorder of blood cells caused by mutation of the phosphatidylinositol glycan class A (PIG‐A) gene. The disease often manifests with haemoglobinuria, peripheral blood cytopenias, and venous thrombosis. The natural history of...

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Bibliographic Details
Published in:British journal of haematology 2004-07, Vol.126 (1), p.133-138
Main Authors: Moyo, Victor M., Mukhina, Galina L., Garrett, Elizabeth S., Brodsky, Robert A.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Aged, 80 and over
Anemias. Hemoglobinopathies
Biological and medical sciences
Child
Clone Cells
Diseases of red blood cells
Female
fluorescently labelled inactive variant of the protein aerolysin
Granulocytes - pathology
Hematologic and hematopoietic diseases
Hematology
Hemoglobinuria, Paroxysmal - complications
Hemoglobinuria, Paroxysmal - diagnosis
Hemoglobinuria, Paroxysmal - mortality
Humans
Logistic Models
Male
Medical sciences
Middle Aged
Odds Ratio
paroxysmal nocturnal haemoglobinuria
Retrospective Studies
Risk Assessment
thrombosis
Thrombosis - etiology
Thrombosis - mortality
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Summary:Summary Paroxysmal nocturnal haemoglobinuria (PNH) is an uncommon, acquired disorder of blood cells caused by mutation of the phosphatidylinositol glycan class A (PIG‐A) gene. The disease often manifests with haemoglobinuria, peripheral blood cytopenias, and venous thrombosis. The natural history of PNH has been documented in retrospective series; but there has only been one study that correlated the more sensitive and specific flow cytometric assays that have become available in the last decade with severe symptoms associated with PNH. In a retrospective analysis of 49 consecutive patients with PNH evaluated at Johns Hopkins, large PNH clones were associated with an increased risk for thrombosis as well as haemoglobinuria, abdominal pain, oesophageal spasm, and impotence. Of the 14 (29%) patients that developed thrombosis, nine died; six of these from complications related to thromboses. According to logistic regression modelling, for a 10% change in PNH clone size, the odds ratio for risk of thrombosis was estimated to be 1·64. No patient with
ISSN:0007-1048
1365-2141
DOI:10.1111/j.1365-2141.2004.04992.x