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Somatic mutations of PIG-A in Thai patients with paroxysmal nocturnal
hemoglobinuria
P Pramoonjago, W Wanachiwanawin, S Chinprasertsak, K Pattanapanayasat, J Takeda and T Kinoshita
Department of Immunoregulation, Osaka University, Japan.
Paroxysmal nocturnal hemoglobinuria (PNH) is a hematopoietic stem cell
disorder characterized by clonal blood cells that are deficient in the
surface expression of glycosylphosphatidylinositol (GPI)-anchored proteins.
In the affected cells, the X-chromosomal gene PIG-A, which participates in
biosynthesis of the GPI anchor, is somatically mutated. Analyses of
Japanese, British, and American patients with PNH have shown somatic
mutations of PIG-A in all of them, indicating that PIG-A is responsible for
PNH in most, if not all, patients in those countries. Twenty-nine of the
reported somatic mutations are small, mostly involving 1 or 2 bases, except
for one with a 4-kb deletion. Here we describe an analysis of PIG-A in
neutrophils from 14 patients from Thailand where PNH is thought to be more
common. We found small somatic PIG-A mutations in all patients. These
consisted of six single base deletions, one each of 2-, 3-, 5- and 10-base
deletions, two single base insertions and two base substitutions. Thus, the
small somatic mutation in the PIG-A gene is also responsible for PNH in
Thailand. However, base substitutions were rarer (2 of 14) than in Japan (8
of 16), and deletions of multiple bases were more common, suggesting
various causes of mutation.
Volume 86,
Issue 5,
pp. 1736-1739,
09/01/1995
Copyright © 1995 by The American Society of Hematology
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