Mapping the prevalence of sickle cell and beta thalassaemia in England: estimating and validating ethnic-specific rates


M. Hickman, CRDHB, Imperial College School of Medicine, 200 Seagrave Road. London SW6 1RQ.


A range of estimates for sickle cell and β thalassaemia have been derived for the different ethnic groups living in the U.K., reflecting uncertainty over the true population value in certain countries and the heterogeneity within and between countries of origin comprising the same ethnic group. These were validated against six community screening programmes, with the estimated range correctly predicting the number of affected births observed by the programmes.

In England approximately 3000 affected babies (0.47%) carry sickle cell trait and 2800 (0.44%) carry β thalassaemia trait annually; with approximately 178 (0.28 per 1000 conceptions) affected by sickle cell disease (SCD) and 43 (0.07 per 1000) by β thalassaemia major/intermedia. Allowing for termination, about 140–175 (0.22–0.28 per 1000) affected infants are born annually with SCD and from 10 to 25 (0.02–0.04 per 1000) with β thalassaemia major/intermedia.

These are the first evidence-based rates for sickle cell and β thalassaemia for use in the U.K., and should underpin the future planning of services. The long-term solution to monitoring changes in the rates of trait and disease in the population is to introduce a standardized instrument for collecting ethnicity for all community screening programmes.