M. Hickman et al., Mapping the prevalence of sickle cell and beta thalassaemia in England: estimating and validating ethnic-specific rates, BR J HAEM, 104(4), 1999, pp. 860-867
A range of estimates for sickle cell and beta thalassaemia hare been derive
d for the different ethnic groups living in the U.K., reflecting uncertaint
y over the true population value in certain countries and the heterogeneity
within and between countries of origin comprising the same ethnic group. T
hese were validated against sis community screening programmes, with the es
timated range correctly predicting the number of affected births observed b
y the programmes.
In England approximately 3000 affected babies (0.47%) carry sickle cell tra
it and 2800 (0.44%) carry beta thalassaemia trait annually; with approximat
ely 178 (0.28 per 1000 conceptions) affected by sickle cell disease (SCD) a
nd 43 (0.07 per 1000) by beta thalassaemia major/intermedia. Allowing for t
ermination, about 140-175 (0.22-0.28 per 1000) affected infants are born an
nually with SCD and from 10 to 25 (0.02-0.04 pr 1000) with beta thalassaemi
a maior/intermedia,
These are the first evidence-based rates for sickle cell and beta thalassae
mia for use in the U.K., and should underpin the future planning of service
s, The long-term solution to monitoring changes in the rates of trait and d
isease in the population is to introduce a standardized instrument for coll
ecting ethnicity for all community screening programmes.