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. This is particularly important in the neonatal period in screening as iron deficiency anaemia may be missed if red blood cell indices alone are used as a screen for iron deficiency.

All new-born babies should have a full blood count and blood film and correlated clinically and referenced to the published reference ranges specific to neonates with Down syndrome.

Transient myeloproliferative disorder (TMD) may be seen in up to 10% of neonates, however only 20% of these may develop acute leukemia in childhood. The management of all babies with or suspected TMD should be discussed with a paediatric haematologist.

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 favorable 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 are reported to persist into adulthood, the reported literature in this area is sparse.

Last updated: March 2015


DSMIG Guidance

Down Syndrome Suggested Schedule of Health Checks PCHR UK Insert 2011

Advise: Newborn blood test to check for abnormal blood film

If blood film is abnormal in first 6 weeks, follow up or repeat blood testing may be necessary until age 5

Presentations at DSMIG Meetings

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Additional Resources

Investigation and management of Transient Leukaemia of Down Syndrome

British Society for Haematology guideline 2018

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

PhD Thesis

Hematological studies in children with Down syndrome.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


Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children’s Oncology Group Study A2971.

A.S., Alonzo, T.A., Gerbing, R.B., Hilden,J.M., Sorrell, A.D., Sharma, M., Loew, T.W.,

Arceci, R.J., Barnard, D., Doyle, J., Massey, G.,Perentesis, J., Ravindranath, Y., Taub, J. &

Smith, F.O. (2011) Blood,118, 6752 6759.


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. Dixon, N.E. et al., 2010. The Journal of Pediatrics, 157(6), pp.967-971.e1.


Book Chapter – Haematological disorders

Beki James and Shiela Puri

Down Syndrome – Current Perspectives MacKeith 2015
ds-current-perspectives-book-coverEdited by Richard Newton , Shiela Puri and Liz Marder