Hematological Disturbances in Down Syndrome: Single Centre Experience of Thirteen Years and Review of the Literature

Abstract

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<0.001). Noother statistically significant difference between groups for hemoglobin,MCV and platelet count levels was detected. In the follow- up period, twopatients developed acute lymphoblastic leukemia, one hemophagocyticlymphohistiocytosis and one Burkitt lymphoma. None of the TL survivorsdeveloped myeloid leukemia of Down Syndrome (ML-DS).Thrombocytopenia may be detected frequently in DS and it may not be a partof TL. We suggest that CBC with peripheral blood film should be evaluated forevery patient to check for TL and other hematological disturbances. Despitethe fact that none of our TL survivors developed overt leukemia (ML-DS), wealso suggest that patients with DS be followed due to the risk of developingleukemia.