Abstract
Background
There is a paucity of data regarding hematological abnormalities in adults with Down’s syndrome (DS).
Aims
We aimed to characterize hematological abnormalities in adult patients with DS and determine their long-term significance.
Methods
We retrospectively studied a cohort of nine DS patients referred to the adult hematology service in our institution between May 2001 and April 2008. Data collected were: full blood count (FBC), comorbidities, investigations performed, duration of follow-up and outcome to most recent follow-up.
Results
Median follow-up was 26 months (9–71). Of the nine patients, two had myelodysplastic syndrome (MDS) at presentation. Of these, one progressed, with increasing marrow failure, and requiring support with transfusions and gCSF. The remaining eight patients, with a variety of hematological abnormalities including leukopenia, macrocytosis, and thrombocytopenia, had persistently abnormal FBCs. However there was no evidence of progression, and no patient has evolved to acute myeloid leukemia (AML).
Conclusions
MDS is a complication of DS and may require supportive therapy. However, minor hematological abnormalities are common in adult DS patients, and may not signify underlying marrow disease.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Webb D, Roberts I, Vyas P et al (2007) Haematology of Down syndrome. Arch Dis Child Fetal Neonatal Ed 92(6):F503–F507
Fong CT, Bordeur GM (1987) Down’s syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. Cancer Genet Cytogenet 28(1):55–76
de Hingh YC, van der Vossen PW, Gemen EF et al (2005) Intrinsic abnormalities of lymphocyte counts in children with Down’s Syndrome. J Pediatr 147(6):744–747
Mundschau G, Gurbuxani S, Gamis A et al (2003) Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. Blood 101(11):4298–4300
Ge Y (2005) GATA1, cytidine deaminase, and the high cure rate of Down syndrome children with acute megakaryocytic leukemia. J Natl Cancer Inst 97:226–231
Weinstein HJ (1978) Congenital leukaemia and the neonatal myeloproliferative disorders associated with Down’s syndrome. Clin Haematol 7(1):147–154
Cazzola M, Malcovati L (2005) Myelodysplastic syndromes: coping with ineffective hematopoiesis. N Engl J Med 352:536
Lange BJ, Kobrinsky N, Barnard DR et al (1998) 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 91(2):608–615
David O, Fiorucci GC, Tosi MT et al (1996) Hematological studies in children with Downs syndrome. Pediatr Hematol Oncol 13(3):271–275
Wachtel TJ, Pueshel SM (1991) Macrocytosis in Downs syndrome. Am J Ment Retard 95(4):417–420
Roizen NJ, Amarose AP (1993) Hematological abnormalities in children with Down syndrome. Am J Med Genet 46(5):510–512
Hasle H, Clemmensen HI, Mikkelsen M et al (2000) Risks of leukaemia and solid tumours in individuals with Down’s syndrome. Lancet 355(9199):165–169
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
McLean, S., McHale, C. & Enright, H. Hematological abnormalities in adult patients with Down’s syndrome. Ir J Med Sci 178, 35–38 (2009). https://doi.org/10.1007/s11845-008-0223-2
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11845-008-0223-2