Antenatal haemoglobinopathy screeningBMJ 2010; 341 doi: https://doi.org/10.1136/bmj.c5243 (Published 18 October 2010) Cite this as: BMJ 2010;341:c5243
- Judy Shakespeare, general practitioner
- 1Summertown Health Centre, Oxford OX2 7AG, UK
The haemoglobinopathies, sickle cell disease and β thalassaemia major, are autosomal recessive diseases. In the United Kingdom, about 240 000 people are healthy carriers of sickle cell gene variants and 12 500 have the disease; β thalassaemia is less common, with 214 000 healthy carriers and 700 patients affected by illness.1 The NHS screening programme for sickle cell disease and thalassaemia was set up in 2001 on evidence from systematic reviews.2 It aims to offer screening before 10 weeks of pregnancy to all women in England, in addition to neonatal blood spot screening.3 Screening couples before 12 weeks provides the opportunity to discuss all the reproductive choices available, including prenatal diagnosis and termination of pregnancy. In the linked randomised controlled trial (doi:10.1136/bmj.c5132), Dormandy and colleagues assess whether offering screening in primary care facilitates earlier uptake of screening⇓.
A problem exists with antenatal screening for sickle cell disease and thalassaemia. Previous research in a high prevalence area has shown that although most women visit their general practitioner early (median gestation 7.6 weeks) screening is significantly delayed (median gestation 15.3 weeks).4 Although 74% of women presented in time only 5% were screened before 10 weeks. …