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Analysis of PIG‐A gene in a patient who developed reciprocal translocation of chromosome 12 and paroxysmal nocturnal hemoglobinuria during follow‐up of aplastic anemia
Author(s) -
Nishimura JunIchi,
Inoue Norimitsu,
Azenishi Yasuhiko,
Hirota Toshiyuki,
Akaogi Teruaki,
Shibano Masaru,
Kawagoe Kazuyoshi,
Ueda Etsuko,
Machii Takashi,
Takeda Junji,
Kinoshita Taroh,
Kitani Teruo
Publication year - 1996
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199603)51:3<229::aid-ajh8>3.0.co;2-z
Subject(s) - paroxysmal nocturnal hemoglobinuria , aplastic anemia , chromosomal translocation , clone (java method) , cd59 , bone marrow , biology , immunology , pancytopenia , hemoglobinuria , medicine , genetics , gene , antibody , complement system , hemolysis
The relationships between paroxysmal nocturnal hemoglobinuria (PNH), aplastic anemia (AA), and myelodysplastic syndrome (MDS) are not clear. Here we describe a patient, J20, who developed a reciprocal translocation of chromosome 12 and PNH during follow‐up of AA. All metaphases in CD59‐deficient bone marrow mononuclear cells had the translocation, whereas none of the CD59‐sufficient cells had it, indicating that the PNH clone coincided with a cell population bearing the chromosomal aberration. We found a somatic single‐base deletion mutation in the PIG‐A gene of this patient's peripheral blood cells. This is the first patient with PNH with a PNH clone containing a chromosomal translocation. © 1996 Wiley‐Liss, Inc.