Vol 36, (10) 785–880
Genetics and blood - Haemoglobinopathies and clotting disorders
Sylvia A Metcalfe BSc(Hons), PhD, is Group Leader, Genetics Education and Health Research, Murdoch Childrens Research Institute, and Associate Professor in Medical Genetics, Department of Paediatrics, The University of Melbourne, Victoria.
Kristine Barlow-Stewart FHGSA(GenCounsel), PhD, is Director, The Centre for Genetics Education of NSW Health, and Associate Professor, Faculty of Medicine, University of Sydney, New South Wales.
Janine Campbell MBBS, FRACP, FRCPA, PhD, is a haematologist, Clinical Haematology, Royal Children's Hospital, Melbourne, Victoria.
Jon Emery MA, MBBCh, MRCGP, FRACGP, DPhil, is Professor, Discipline of General Practice, University of Western Australia.
BACKGROUND Genetic disorders of the blood are common inherited conditions of global impact. The haemoglobinopathies and clotting disorders represent two areas of significance to Australian primary care practitioners.
OBJECTIVE This article describes the haemoglobinopathies and thrombophilias and their relevance to primary care practitioners. In particular it describes the role of the general practitioner in identifying who is at risk of being a carrier of, or at risk of developing, these conditions.
DISCUSSION Global migration patterns to Australia have meant that the carrier frequency of haemoglobinopathies has increased in recent years. General practitioners play a key role in carrier screening and ideally should consider screening of couples in pre-pregnancy situations wherever possible. Genetic predisposition to thrombophilias is an important factor regarding the risk of thrombophilias and should be considered as part of the indications for screening.
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