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Chapter 6 - Newborn Genetic Screening for Blood Disorders

from Section III - Erythrocyte Disorders

Published online by Cambridge University Press:  30 January 2021

Pedro A. de Alarcón
University of Illinois College of Medicine
Eric J. Werner
Children's Hospital of the King's Daughters
Robert D. Christensen
University of Utah
Martha C. Sola-Visner
Harvard University, Massachusetts
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The newborn screening (NBS) program is a well-established comprehensive public health initiative with the main goal of identifying newborns affected by genetic disorders, for whom early interventions may prevent disease morbidity and mortality. The early-in-life screening for genetic conditions not only permits early institution of specific therapeutic measures for those affected, but also creates the opportunity for genetic counselling for carriers (e.g., parents). Several hematologic conditions have benefited from NBS, most notably hemoglobinopathies, particularly sickle cell disease (SCD), for which early diagnosis with preemptive penicillin initiation has substantively reduced pediatric mortality [1, 2].

Neonatal Hematology
Pathogenesis, Diagnosis, and Management of Hematologic Problems
, pp. 93 - 112
Publisher: Cambridge University Press
Print publication year: 2021

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