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  • Print publication year: 2021
  • Online publication date: January 2021

Section III - Erythrocyte Disorders

Summary

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]. The inclusion of severe combined immune deficiency (SCID) in the panel of screened genetic disorders has allowed for early referral to hematopoietic stem cell transplantation and the soon-to-be scaled up, gene therapy [3, 4].