Thalassaemia

Thalassaemias are among the most common genetic disorders worldwide; an estimated 1.5% of the global population carries a thalassaemia mutation. Originally associated with tropical and sub-tropical regions, migration has facilitated wider dispersal, concentrated in larger multi-ethnic conurbations. Thalassaemias are heterogeneous, ranging from asymptomatic to causing severe haemolytic anaemia with pan-corporal sequelae and complications. Carriers benefit from access to pre-conception and antenatal advice and screening. The National Health Service Antenatal Haemoglobinopathy Screening Programme has operated since 2001, but carrier diagnoses may still emerge incidentally. This article provides an overview of the genetics, presentation and management of thalassaemia.