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

• Published in: Transfusion and apheresis science 2013-10, Vol.49 (2), p.113-115
• Main Authors: Lowenthal, Ray M, Tegg, Elizabeth M, Dickinson, Joanne L
• Format: Article
• Language: English
• Subjects: Age Factors; Case-Control Studies; Family; Health technology assessment; Hematologic Neoplasms - diagnosis; Hematologic Neoplasms - epidemiology; Hematologic Neoplasms - genetics; Hematologic Neoplasms - therapy; Hematology, Oncology and Palliative Medicine; Humans; Tasmania - epidemiology
• ISSN: 1473-0502; 1878-1683
• DOI: 10.1016/j.transci.2013.07.011

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.