Antenatal screening for haemoglobinopathies: current status, barriers and ethics

Br J Haematol. 2019 Nov;187(4):431-440. doi: 10.1111/bjh.16188. Epub 2019 Sep 11.


Sickle cell disease (SCD) and thalassaemia are genetic disorders that are caused by errors in the genes for haemoglobin and are some of the most common significant genetic disorders in the world, resulting in significant morbidity and mortality. Great disparities exist in the outcome of these conditions between resource- rich and resource-poor nations. Antenatal screening for these disorders aims to provide couples with information about their reproductive risk and enable them to make informed reproductive choices; ultimately reducing the likelihood of children being born with these conditions. This review provides an overview of the current status of antenatal, pre-marital and population screening of SCD and thalassaemia in countries with both high-and low prevalence of these conditions, methods of screening in use, and discusses some of the pitfalls, ethical issues and controversies surrounding antenatal screening. It also discusses outcomes of some screening programmes and recognises the need for the establishment of antenatal screening in areas where their prevalence is highest; namely sub-Saharan Africa and India.

Keywords: prenatal diagnosis; sickle cell disease; thalassaemia.

Publication types

  • Review

MeSH terms

  • Anemia, Sickle Cell / diagnosis
  • Anemia, Sickle Cell / epidemiology
  • Female
  • Hemoglobinopathies / diagnosis*
  • Humans
  • Pregnancy
  • Prenatal Diagnosis / ethics
  • Prenatal Diagnosis / methods*
  • Prenatal Diagnosis / standards
  • Thalassemia / diagnosis
  • Thalassemia / epidemiology