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Haematology of Down syndrome
  1. David Webb1,
  2. Irene Roberts2,
  3. Paresh Vyas3
  1. 1
    Department of Haematology, Great Ormond Street Hospital for Children, London, England
  2. 2
    Department of Haematology, Hammersmith and St Mary’s Hospitals, Imperial College, London, England
  3. 3
    Department of Haematology and MRC Molecular Haematology Unit, John Radcliffe Hospital and Weatherall Institute of Molecular Medicine, Oxford, England
  1. Paresh Vyas, Department of Haematology and MRC Molecular Haematology Unit, John Radcliffe Hospital and Weatherall Institute of Molecular Medicine, Oxford OX3 9DU, England; paresh.vyas{at}imm.ox.ac.uk

Abstract

Down syndrome is a common congenital disorder affecting ∼1/1000 live births. Newborns and children with Down syndrome may present with many haematological problems. In addition, benign abnormalities of the blood count and blood film, which may manifest at any age, population-based and cancer-based registries and clinical trials suggest there is a ∼12-fold increased risk of acute lymphoblastic leukaemia in the age group of 5–30 years that rises to ∼40-fold in children younger than 5 years, and that there is a ∼150-fold increased risk of acute myeloid leukaemia in children younger than 5 years. There is also a virtually unique predisposition to a transient neonatal leukaemia, known as transient abnormal myelopoiesis. Deaths from leukaemia, in part, account for the excess mortality associated with Down syndrome. This article reviews the clinical presentation and the progress made in the management of these disorders over the past decade. It also briefly considers the recent exciting scientific advances that have potential to transform management of leukaemia in children with Down syndrome and also have implications for management of childhood leukaemia more generally.

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Footnotes

  • PV is a Wellcome Trust Senior Clinical Fellow and is funded by the Wellcome Trust, Leukaemia Research Fund and the Medical Research Council. IR is funded by the Kay Kendall Fund.

  • Competing interests: None.

  • Abbreviations:
    ALL-DS
    acute lymphoblastic leukaemia of Down syndrome
    MDS
    myelodysplastic phase
    ML-DS
    myeloid leukaemia of Down syndrome
    TAM
    transient abnormal myelopoiesis

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