Thalassaemia carrier testing in Pakistani adults: behaviour, knowledge and attitudes

To describe beta-thalassaemia (thalassaemia) carrier testing behaviour (whether tested or intentions of testing) amongst a sample of UK Pakistani adults; their level of knowledge about thalassaemia, and their attitudes toward thalassaemia carrier testing.

In a cross-sectional design semi-structured interviews, data were obtained from 59 Pakistani adults including 19 parents of children with thalassaemia; 20 of their relatives, and 20 'lay' adults. The outcome measures include: knowledge of thalassaemia and genetic inheritance, carrier testing behaviour, attitudes toward carrier testing and source of information about thalassaemia.

Knowledge about carriers and inheritance of thalassaemia was low. Intention to have carrier testing was low in those participants who had not been tested. Participants generally had positive attitudes toward carrier testing. Relatives and lay adults most frequently identified a thalassaemia family member as their source of information about thalassaemia, and only seven parents identified 'a health service source' as their source of information.

Pakistani adults have insufficient knowledge to be aware of their risk of carrying a gene that may result in the birth of a child with thalassaemia. This finding may explain in part why intention to have carrier testing was low. Although thalassaemia is discussed in families where the disease is present, it is unlikely that information about its inheritance is discussed. Further empirical evidence is needed to improve the quality of information disseminated by both professionals and non-professionals to ensure Pakistani adults are able to make informed decisions about carrier testing, prenatal diagnosis and termination of pregnancy.