Thalassaemia in Australia

Abstract

The composition of the Australian population has altered considerably in the last 30 years, largely as the result of the Federal Government’s immigration policy. The injection of a significant thalassaemic gene pool has implications both at the present time and for the future. Data concerning the ethnic groups in Australia and an analysis of the available figures will be presented and an attempt made to assess the size of the thalassaemia problem. Factors which influence this assessment are mentioned and possible steps to remedy the inadequacy of available data will be discussed. The latter will introduce population screening, diagnostic facilities, genetic counselling and ante natal diagnosis, as they are available and practised in Australia at the present time. The heterogeneity of both β and α thalassaemia will be emphasized and a detailed analysis of all cases of thalassaemia major and haemoglobin H disease should be aimed for, both in relation to genetic counselling and ante natal diagnosis.