Leukopenia, macrocytosis, and thrombocytopenia occur in young adults with Down syndrome

Yo Hamaguchi; Tatsuro Kondoh; Masafumi Fukuda; Kazumi Yamasaki; Koh-Ichiro Yoshiura; Hiroyuki Moriuchi; Mariko Morii; Masashi Muramatsu; Takashi Minami; Motomi Osato

doi:10.1016/j.gene.2022.146663

Leukopenia, macrocytosis, and thrombocytopenia occur in young adults with Down syndrome

Gene. 2022 Aug 15:835:146663. doi: 10.1016/j.gene.2022.146663. Epub 2022 Jun 8.

Authors

Affiliations

¹ Department of Pediatrics, National Hospital Organization Nagasaki Medical Center, Omura, Japan; Department of Human Genetics, Atomic Bomb Disease Institute, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
² The Misakaenosono Mutsumi Developmental, Medical and Welfare Center, Nagasaki, Japan.
³ Clinical Research Center, National Hospital Organization Nagasaki Medical Center, Omura, Japan.
⁴ Department of Human Genetics, Atomic Bomb Disease Institute, Division of Advanced Preventive Medical Sciences and Leading Medical Research Core Unit, Nagasaki University Graduate School of Biomedical Sciences, Japan.
⁵ Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
⁶ International Research Center for Medical Sciences, Kumamoto University, Japan.
⁷ Center for Animal Resources and Development, Kumamoto University, Japan.
⁸ International Research Center for Medical Sciences, Kumamoto University, Japan; Cancer Science Institute of Singapore, National University of Singapore, Singapore; Department of Pediatrics, National University of Singapore, Singapore. Electronic address: csimo@nus.edu.sg.

PMID: 35690282
DOI: 10.1016/j.gene.2022.146663

Abstract

Down syndrome (DS) is a common congenital disorder caused by trisomy 21. Due to the increase in maternal age with population aging and advances in medical treatment for fatal complications in their early childhood, the prevalence and life expectancy of DS individuals have greatly increased. Despite this rise in the number of DS adults, their hematological status remains poorly examined. Here, we report that three hematological abnormalities, leukopenia, macrocytosis, and thrombocytopenia, develop as adult DS-associated features. Multi- and uni-variate analyses on hematological data collected from 51 DS and 60 control adults demonstrated that young adults with DS are at significantly higher risk of (i) myeloid-dominant leukopenia, (ii) macrocytosis characterized by high mean cell volume (MCV) of erythrocytes, and (iii) lower platelet counts than the control. Notably, these features were more pronounced with age. Further analyses on DS adults would provide a deeper understanding and novel research perspectives for multiple aging-related disorders in the general population.

Keywords: Aging; Down syndrome; Leukopenia; Macrocytosis; Thrombocytopenia.

MeSH terms

Child, Preschool
Down Syndrome* / complications
Hematologic Diseases*
Humans
Leukopenia* / complications
Thrombocytopenia*
Trisomy
Young Adult