Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c |
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| Authors: | J. Hudson,,S. Chown,,M. Lawler,,C. Duggan,,I. J. Temperley, & L. Secker-Walker, |
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| Affiliation: | Department of Haematology, National Childrens Hospital, Harcourt Street, Dublin,;Bone Marrow Transplant Unit, Royal Hospital for Sick Children, Bristol,;Sir Patrick Duns Research Laboratories, St James's Hospital, Dublin,;Cytogenetics Laboratory, Royal Free Hospital, London |
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| Abstract: | 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. |
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| Keywords: | severe aplastic anaemia congenital thrombocytopenia bone marrow transplantation chromosomal translocation t(6 10)c. |
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