Genetics and blood--haemoglobinopathies and clotting disorders.

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.