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CD59‐deficient blood cells and PIG‐A gene abnormalities in Japanese patients with aplastic anaemia
Author(s) -
AZENISHI YASUHIKO,
UEDA ETSUKO,
MACHII TAKASHI,
NISHIMURA JUNICHI,
HIROTA TOSHIYUKI,
SHIBANO MASARU,
NAKAO SHINJI,
KINOSHITA TAROH,
MIZOGUCHI HIDEAKI,
KITANI TERUO
Publication year - 1999
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1999.01214.x
Subject(s) - cd59 , heteroduplex , mutation , gene , biology , gene mutation , microbiology and biotechnology , aplastic anemia , paroxysmal nocturnal hemoglobinuria , genetics , immunology , bone marrow , antibody , complement system
Patients with aplastic anaemia (AA) frequently develop paroxysmal nocturnal haemoglobinuria (PNH) as a late complication. We investigated the frequency of the development of PNH features including a glycosyl phosphatidylinositol (GPI) anchoring defect in 73 Japanese patients with AA. A deficient expression of CD59 was found on erythrocytes and/or granulocytes in 21/73 (28.8%) of the patients. A Ham/sugar water test was positive in 13/21 patients. We also examined mutations of the PIG‐A gene in 11 patients with CD59 deficiency. A heteroduplex analysis detected PIG‐A gene abnormality in 10/11 patients tested. Nucleotide sequencing was performed in six patients and identified eight mutations including three mutations in one patient. The mutations of the PIG‐A gene were all different and included two single‐base insertions, one single‐base deletion, two two‐base deletions, and one each of eight‐base insertion and nine‐ and ten‐base deletions. All mutations but one caused frameshifts. Our findings indicate that a high proportion of Japanese patients with severe AA have a GPI‐anchoring defect and that the PIG‐A gene is mutated in the AA patients who had a GPI deficiency. We found no significant difference in the pattern of the PIG‐A gene mutation between the AA patients with a GPI deficiency and those with de novo PNH.