Neonates with Down syndrome (DS) may have hematological abnormalitiessuch as polycythemia, thrombocytopenia and transient leukemia (TL).The primary objective of this study was to report the descriptive data ofcomplete blood counts (CBC) of neonates with DS, which were obtainedwithin first week of life. We wanted to focus on neonates with hematologicalabnormalities and compare them among those with and without TL. Thesecondary objective was the description of hematological malignancies in thefirst six years of life.Medical records of 100 neonates with DS between 2006-2018 were assessed.Hematological abnormalities were present in 73/100. We detected anemia in16, polycythemia in eight, microcytosis in 10, leukopenia in two, leukocytosisin 11, thrombocytopenia in 26, thrombocytosis in 7 and TL in 11 patients.TL group had higher levels of leukocyte count (115.0±93.0x103/mm3) whencompared with neonates without TL (11.7±5.6x103/mm3) (p
___
1. Agarwal Gupta N, Kabra M. Diagnosis and management of Down syndrome. Indian J Pediatr 2014; 81: 560-567.
2. Martínez-Macías FJ, Bobadilla-Morales L, GonzálezCruz J, et al. Descriptive study of the complete blood count in newborn infants with Down syndrome. Am J Med Genet A 2017; 173: 897-904.
3. Jackson GL, Sendelbach DM, Rambally B, Manning MD, Engle WD. Circulating blasts and associated hematologic disorders in neonates with Down syndrome. Am J Perinatol 2012; 29: 259-266.
4. Kim DW, Kim HR, Shin MG, et al. Distinctive hematological abnormalities in East Asian neonates and children with Down syndrome. Int J Lab Hematol 2011; 33: 369-377.
5. Henry E, Walker D, Wiedmeier SE, Christensen RD. Hematological abnormalities during the first week of life among neonates with Down syndrome: data from a multihospital healthcare system. Am J Med Genet A 2007; 143A: 42-50.
6. Hord JD, Gay JC, Whitlock JA. Thrombocytopenia in neonates with trisomy 21. Arch Pediatr Adolesc Med 1995; 149: 824-825.
7. Bull MJ; Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 2011; 128: 393-406. Erratum in: Pediatrics 2011; 128: 1212.
8. Ciovacco WA, Raskind WH, Kacena MA. Human phenotypes associated with GATA-1 mutations. Gene 2008; 427: 1-6.
9. Zipursky A. Transient leukaemia--a benign form of leukaemia in newborn infants with trisomy 21. Br J Haematol 2003; 120: 930-938.
10. Roberts I, Alford K, Hall G, et al; on behalf of the Oxford-Imperial Down Syndrome Cohort Study Group. GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia. Blood 2013; 122: 3908-3917.
11. Gamis AS, Alonzo TA, Gerbing RB, et al. Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971. Blood 2011; 118: 6752-6759.
12. Tunstall O, Bhatnagar N, James B, et al; British Society for Haematology. Guidelines for the investigation and management of Transient Leukaemia of Down Syndrome. Br J Haematol 2018; 182: 200-211.
13. Appendix 1: Hematological Reference Values. In: Lanzkowsky P, Lipton, JM, Fish JD (eds). Lanzkowsky’s Manual of Pediatric Hematology and Oncology(6th ed). UK and USA: Elsevier, 2016: 709- 728.
14. Klusmann JH, Creutzig U, Zimmermann M, et al. Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood 2008; 111: 2991-2998.
15. Dixon N, Kishnani PS, Zimmerman S. Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. Am J Med Genet C Semin Med Genet 2006; 142C: 149-157.
16. Crispino JD, Horwitz MS. GATA factor mutations in hematologic disease. Blood 2017; 129: 2103-2110.
17. Satgé D, Sommelet D, Geneix A, Nishi M, Malet P, Vekemans M. A tumor profile in Down syndrome. Am J Med Genet 1998; 78: 207-216.
18. Hasle H, Clemmensen IH, Mikkelsen M. Risks of leukaemia and solid tumours in individuals with Down's syndrome. Lancet 2000; 355: 165-169.
19. Patja K, Pukkala E, Sund R, Iivanainen M, Kaski M. Cancer incidence of persons with Down syndrome in Finland: a population-based study. Int J Cancer 2006; 118: 1769-1772.
20. Kuitert PC, Abbink FC, Broers CJ, van der Valk P, van Furth AM, van der Kuip M. Epstein-Barr virus infection with severe consequences. EBV, haemophagocytic lymphohistiocytosis and Hodgkin lymphoma with Down syndrome. Ned Tijdschr Geneeskd 2014; 158: A7608.
21. Patiroglu T, Cansever M, Bektas F. Underlying factors of recurrent infections in patients with down syndrome. North Clin Istanb 2018; 5: 163-168.