Blood Disorders


People with Down syndrome often have non-specific blood abnormalities, particularly in the neonatal period and childhood.

It is important to correlate results clinically and to reference the published haematological reference ranges specific to children with Down syndrome.
Some studies suggest that anaemia is more common in children with Down syndrome as anaemia may be missed if red blood cell indices alone are used as a screen for iron deficiency.

Transient leukemia of Down syndrome or Transient abnormal myelopoiesis (TL- DS/ TAM) may be seen in 5% to 30% of neonates with Down syndrome. TL- DS results in early death in 15-23% cases and 20% of survivors of TL- DS may develop acute leukemia in childhood. The British Society of Haematology published guidelines (listed below) in 2018. All new-born babies should have a full blood count and blood film for estimation of peripheral blast cells percentage. If the blast cells are greater than 10% a sample should be sent for GATA1 mutational analysis +/- flow cytometry. The child should be discussed urgently with the Paediatric Oncology Principal Treatment Centre.

In addition, of all children with Down syndrome, 1-2% will develop acute leukemias. The most common type seen is myeloid leukemia of Down syndrome, ML-DS, (previously known as AMKL) this is specifically associated with TMD and GATA-1 mutation. This has a very favourable outcome, with an event free survival of 80-100%.

Acute lymphoblastic leukemia occurs with a 24 fold increased risk in Down syndrome, the outcome is similar to the general population. Although treatment toxicity is more common and should be modified accordingly.

Leukemias are rarely reported after the age of 29. Non- specific haematological abnormalities are reported to persist into adulthood, the literature in this area is sparse.

DSMIG Guidance

Down Syndrome – Suggested Schedule of Health Checks PCHR UK Insert 2011

Blood Checks – Newborn blood test to check for abnormal blood film. If blood film is abnormal follow protocol as recommended by the BSH 2018

Presentations at DSMIG Meetings

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Additional Resources

Guidelines for the investigation and management of Transient Leukaemia of Down Syndrome. Tunstall, O. , Bhatnagar, N. , James, B. , Norton, A. , O’Marcaigh, A. S., Watts, T. , Greenough, A. , Vyas, P. , Roberts, I. , Wright, M. and , (2018),  British Journal of Haematology,  182: 200-211. last accessed 25 May 2019

A study of the neonatal haematology of children with Down syndrome. James R (2011)

Hematological studies in children with Down syndrome. David O, Fiorucci CC, Tosi MT, Altare F, Valori F, Saracco P, Asinardi P, Ramenghi U, Cabutti V  1996. . Pediatric Hematology and Oncology, 13(3), pp.271–275

Acute lymphoblastic leukaemia in children with Down syndrome: an updated review. Maloney, K., 2011. British Journal of Haematology, 155(4), pp.420–425.

Prevalence of iron deficiency in children with Down syndrome. The Journal of Pediatrics. Dixon, N.E. et al., 2010. , 157(6), pp.967–971.e1.

Last updated: May 25, 2019 Dr Shiela Puri, Consultant Community Paediatrician