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The Familial Tasmanian Haematological Malignancies Study (FaTHMS): its origins, its history and the phenomenon of anticipation.

作者信息

Lowenthal Ray M, Tegg Elizabeth M, Dickinson Joanne L

机构信息

Menzies Research Institute of the University of Tasmania, 17 Liverpool Street, Hobart TAS 7000, Australia.

出版信息

Transfus Apher Sci. 2013 Oct;49(2):113-5. doi: 10.1016/j.transci.2013.07.011. Epub 2013 Aug 19.

DOI:10.1016/j.transci.2013.07.011
PMID:23968988
Abstract

We began epidemiological studies of haematological malignancies (lymphomas, leukaemias and related diseases) in Tasmania, the island state of Australia, in 1972. Our work has identified a number of families each containing several cases. In contrast to reports from elsewhere, we recognised familial cases incorporating the range of haematological malignancies, that is, not confined to a single diagnosis. Furthermore the average number of cases per extended family tree has exceeded that of any prior report. An unexpected discovery from the detailed familial analysis was that of anticipation, the phenomenon whereby the symptoms of a disorder become apparent at an earlier age as it is passed on to the next generation. These findings strengthen the case for there being genetic anomalies underlying the development of haematological malignancies at least in some cases, and are the subject of ongoing research.

摘要

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