Haematology of Down syndrome
David Webb 1, Irene Roberts 2 and Paresh Vyas 3*
1 Department of Haematology, Great Ormond Street Hospital for Children, London, United Kingdom
2 Imperial College Hammersmith Campus, United Kingdom
3 Haematology, John Radcliffe Hospital and WIMM,University of Oxford, United Kingdom
* To whom correspondence should be addressed. E-mail: paresh.vyas{at}imm.ox.ac.uk.
Accepted 19 March 2007
 | 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.
Keywords:
Down Syndrome, GATA1, leukaemia, transient abnormal myelopoiesis
