Last Review Date: 19 April 2023

Antenatal screening/testing of pregnant women should be carried out according to the guidelines of the National Health Service (NHS) Sickle Cell and Thalassaemia Screening Programme. Newborn screening and, when necessary, follow-up testing and referral, should be carried out according to the guidelines of the NHS Sickle Cell and Thalassaemia Screening Programme. All babies under 1 year of age arriving in the United Kingdom should be offered screening for sickle cell disease (SCD). Preoperative screening for SCD should be carried out in patients from ethnic groups in which there is a significant prevalence of the condition. Emergency screening with a sickle solubility test must always be followed by definitive analysis. Laboratories performing antenatal screening should utilise methods that are capable of detecting significant variants and are capable of quantitating haemoglobins A2 and F at the cut-off points required by the national antenatal screening programme. The laboratory must ensure a provisional report is available for antenatal patients within three working days from sample receipt.

Podcast - Significant haemoglobinopathies: A guideline for screening and diagnosis - Length: 28:30
Podcast - Significant haemoglobinopathies: A guideline for screening and diagnosis. Presented by Noemi Roy, Melanie Proven and Jennifer Eglington.

Declaration of Interests

All authors have made a full declaration of interest to the BSH and Task Force Chairs, which may be viewed on request. None of the authors have any relevant conflicts of interest to declare.