Neonatal screening for haematological disorders

Neonatal screening for haematological disorders has advanced over the last decade in England, with the phased implementation of a universal screening programme for the detection of sickle cell disease. Glucose-6-phosphate dehydrogenase deficiency and haemoglobin H disease are included in the universal newborn screening programmes in some parts of the world. Selective screening for haematological diseases should be considered in neonates with unexplained or prolonged hyperbilirubinaemia. Additionally, selective screening for haemostatic disorders is recommended in neonates at risk of hereditary bleeding disorders, although the majority of haemostatic abnormalities detected in the newborn are acquired. This review will give an introduction to the above disorders and discuss the role and procedures in place for newborn screening.