Haemoglobinopathies

Abstract

Haemoglobinopathies are inherited disorders, usually autosomal recessive. Carriers (heterozygotes), with just one abnormal gene, are usually asymptomatic, whereas people who inherit an abnormal gene from both parents (homozygotes) express the disease. In most parts of the UK there is a programme of antenatal and neonatal screening for the most serious variants. Haemoglobinopathies fall into two main categories: