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16 - Hematologic abnormalities in individuals with Down syndrome

from Section 2 - Neoplastic hematopathology

Published online by Cambridge University Press:  03 May 2011

John Kim Choi
Affiliation:
University of Pennsylvania School of Medicine
Maria A. Proytcheva
Affiliation:
Northwestern University Medical School, Illinois
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Summary

Introduction

Down syndrome (DS) was first reported in 1866 [1], but likely recognized much earlier [2, 3]. DS is caused by an extra copy of chromosome 21 (whole or partial) and is the most common chromosomal abnormality in the live newborn, with a prevalence estimated at 1 in 644–733 births in the United States [4, 5]. This prevalence will likely change because of delayed maternity, which is associated with increased risk of DS [6], and because of simpler and less invasive prenatal diagnosis of DS [7, 8]. Patients with DS have numerous consistent and variable clinical presentations that include mental retardation, characteristic facies, congenital heart defects, and gastrointestinal abnormalities.

The hematologic abnormalities associated with DS and their diagnostic features are detailed in this chapter.

Hematologic abnormalities in the DS newborn

DS newborns can have transient thrombocytopenia, polycythemia, or neutrophilia. They rarely present with unexplained thrombocytosis, anemia, or neutropenia [5], which are most likely unrelated to DS.

Synonyms

Currently, no one has coined a unique term for this phenomenon and it is usually referred to descriptively as hematologic abnormalities in the newborn/neonates with DS [5, 9, 10]. This chapter will use the term hematologic abnormalities in the newborn with DS (HANDS).

Epidemiology

Up to 80%, 66%, and 34% of DS newborns have neutrophilia, thrombocytopenia, and polycythemia, respectively [5, 9, 10]. These hematological abnormalities spontaneously resolve by three weeks of age [9].

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Publisher: Cambridge University Press
Print publication year: 2011

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