Evaluation of hematological findings in children with Down syndrome


  • Hakan Sarbay Department of Pediatric Hematology and Oncology, Diyarbakır Children Hospital, Diyarbakır, Turkey




Down syndrome, Hematological disorders, Macrocytosis


Background: Various hematological disorders and malignancies may be encountered with Down syndrome. In this article, hematological findings of children with Down syndrome were investigated.

Methods: The hematological results of 106 Down syndrome children aged 3 months to 17 years were assessed retrospectively. The results were compared with a patient group consisting of non-DS and healthy children with a similar age range.

Results: When compared with the control group, a significant difference was found between the frequencies of neutropenia, monocytosis, macrocytosis and anisocytosis. No significant difference was detected between the patients with macrocytosis and those without macrocytosis when the relation of macrocytosis with other hematological disorders was examined. On the other hand, the comparison between the groups with and without macrocytosis showed that the prevalence of acute leukemia was significantly higher in patients with Down syndrome.

Conclusions: DS children with macrocytosis should be more closely monitored for myelodysplastic syndrome and acute leukemia.


Weijerman ME, de Winter JP. Clinical practice. The care of children with Down syndrome. Eur J Pediatr. 2010;169:1445-52.

Xavier AC, Ge Y, Taub J. Unique clinical and biological features of leukemia in Down syndrome children. Expert Rev Hematol. 2010;3:175-86.

Ibarra B, Rivas F, Medina C, Franco ME, Romero-García F, Enriquez C, et al. Hematological and biochemical studies in children with Down syndrome. Ann Genet. 1990;33:84-7.

Beard JL, Connor JR. Iron status and neural functioning. Annu Rev Nutr. 2003;23:41-58.

Lozoff B, Jimenez W, Wolf AW. Long term developmental outcome of infants with iron deficiency. N Engl J Med. 1991;325:687-94.

David O, Fiorucci GC, Tosi MT, Zimmerman SA, Worley G, Kishnani PS. Hematological studies in children with Down syndrome. Pediatr Hematol Oncol. 1996;13:271-5.

Prasher VP. Screening of medical problems in adults with Down syndrome. Down Synd Res Pract. 1994;2:59-66.

Kivivuori SM, Rajantie J, Siimes MA. Peripheral blood cell counts in infants with Down syndrome. Clin Genet. 1996;49:15-9.

Wedemeyer AL, Edson JR, Krivit W. Coagulation in cyanotic congenital heart disease. Am J Dis Child. 1972;124:656-60.

Dixon N, Kishnani PS, Zimmermann S. Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. Am J Med Genet Part C Semin Med Genet. 2006;142:49-57.

Akin K. Macrocytosis and leukopenia in Down Syndrome. JAMA. 1988;259:842.

Maligne S, Izraeli S, Crispino JD. Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood. 2009;113:2619-28.

Hasle H, Clemmensen IH, Mikkelsen M. Risks of leukemia and solid tumours in individuals with Down Syndrome. Lancet. 2000;355:165-9.

Buitenkamp TD, Izraeli S, Zimmermann M, Forestier E, Heerema NA, van den Heuvel-Eibrink MM, et al. Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study group. Blood. 2014;123:70-7.

Webb D, Roberts I, Vyas P. Haematology of Down syndrome. Arch Dis Child Fetal Neonatal Ed. 2007;92:503-7.

Lange BJ, Kobrinski N, Barnard DR, Arthur DC, Buckley JD, Howells WB, et al. Distinctive demography, biology, and outcome of acute myeloid leukemia and myelodysplastic syndrome in children with Down syndrome: Children’s Cancer Group studies 2861 and 2891. Blood. 1998;91(2):608-15.

Zeller B, Gustafsson G, Forestier E, Abrahamsson J, Clausen N, Heldrup J, et al. Acute leukaemia in children with Down syndrome: a population-based Nordic study. Br J Haematol. 2005;128:797-804.

Wickramasinghe SN, McCullough J. Blood and Bone Marrow pathology. Acute leukemias. Churchill Livingstone Elsevier. 2003:351-80.

Taub JW, Ge Y. Down syndrome, drug metabolism, and chromosome 21. Pediatr Blood Cancer. 2005;44:33-9.

Evans DI. Acute myelofibrosis in children with Down’s syndrome. Arch Dis Child. 1975;50:458-62.

Ueda K, Kawaguchi Y, Kodama M, Tanaka Y, Usui T, Kamada N. Primary myelofibrosis with myeloid metaplasia and cytogenetically abnormal clones in 2 children with Down’s syndrome. Scan J Haematol. 1981;27:152-8.

Pantazis CG, McKie VC, Sabio H, Davis PC, Allsbrook WC. Down’s Syndrome and acute myelofibrosis: time study of DNA content during the progression to leukaemia. Cancer. 1988;61:2239-43.






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