Haematology of Down syndrome

Abstract

Down Syndrome (DS) is one of the commonest congenital disorders affecting ~1/1000 live births (www.wolfson.qmul.ac.uk/ndscr). Newborns and children with DS may present with a number of haematological problems. In addition, benign abnormalities of the blood count and blood film, which may manifest at any age, population- and cancer-based registries and clinical trials suggest that there is a between ~12-fold increased risk of acute lymphoblastic (ALL) in the age group 5-30 years old that rises to ~40-fold old in children under 5 years of age, and that there is a ~150- fold increased risk of acute myeloid leukaemia (AML) in children under 5 years of age1,2. There is also a virtually unique predisposition to a transient neonatal leukaemia, known as Transient Abnormal Myelopoiesis (TAM). Deaths from leukaemia, in part, account for the excess mortality associated with DS3.

Here, we review the clinical presentation and the progress made in the management of these disorders over the last decade. We also briefly consider the recent exciting scientific advances that not only have potential to transform management of leukaemia in children with DS, but also have implications for management of childhood leukaemia more generally.