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Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c
Author(s) -
Hudson J.,
Chown S.,
Lawler M.,
Duggan C.,
Temperley I. J.,
SeckerWalker L.
Publication year - 1997
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.1365-2141.1997.4433253.x
Subject(s) - chromosomal translocation , breakpoint , bone marrow transplantation , medicine , chromosomal abnormality , abnormality , immunology , karyotype , aplastic anemia , bone marrow , biology , genetics , gene , chromosome , psychiatry
Severe aplastic anaemia (SAA) is an uncommon disorder which may be associated with several congenital syndromes. However, it has rarely been described in association with a constitutional karyotypic abnormality. The breakpoint of the balanced t(6;10)(q13;q22) translocation described here does not disrupt any currently recognized gene of haemopoietic or stromal importance. This report also highlights the problems inherent in the use of bone marrow transplantation (BMT) for treating multiply transfused aplastic anaemia patients.