Abstract

The haemoglobinopathies are a complex group of red blood cell disorders. The ethnic diversity of the population in many parts of the UK means that these disorders are increasingly being seen in the antenatal setting. With the planned introduction of both antenatal and newborn screening programmes for haemoglobinopathies in England and Wales, a review of the subject is timely. This article explains the genetic background and clinical features of the major haemoglobinopathies, discusses antenatal screening and prenatal diagnosis, and highlights the implications of pregnancy for women with these disorders.

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