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Year : 2012  |  Volume : 3  |  Issue : 2  |  Page : 82-84

Newborn Screening for Hemoglobin Disorders and G6PD deficiency: A National Strategy Toward a Uniform Screening Panel and System

Department of Pediatric Hematology/Oncology, King Abdul Aziz University Hospital, Faculty of Medicine, King Abdul Aziz University, Jeddah, Saudi Arabia

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Newborn screening (NBS) programs help identify serious disease conditions that can lead to mortality, morbidity, and disability and can be controlled only after detection. The purpose of NBS is identifying infants with clinically significant disorders, providing them with specialized care, and educating parents at an early stage before the onset of clinical symptoms. The efficiency and effectiveness of NBS depends on the smooth integration of sample collection, laboratory testing, follow-up, diagnosis, timely treatment, management, and tracking of outcomes. NBS began in the early 1960s with the original work of Dr. Robert Guthrie, who developed a screening test for phenylketonuria and a system for the collection and transportation of blood samples on filter paper[1]. NBS has been nationally recognized as an essential program that aims to ensure the best outcomes for the nation's newborn population. However, there are no defined national standards for NBS[1-6].. In 2000, the Newborn Task Force of the American Academy of Pediatrics (AAP) indicated that uniformity among programs would benefit families, professionals, and public health agencies[7]. Neonatal screening programs are effective when they are integrated into comprehensive follow-up services and coupled with parental education and support. Hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency are the common disorders that affect newborns in the Kingdom of Saudi Arabia, and the incidence of these diseases has shown wide geographical variation[ 8-12]. NBS for sickle cell disorders (SCDs) and G6PD deficiency was introduced in the Kingdom of Saudi Arabia in the early 1980s[13-14]. The primary objective of neonatal screening is to identify infants with clinically significant disorders such as SCD, thalassemia major, and G6PD deficiency and provide comprehensive care and follow-up with early parental education to reduce morbidity and mortality[15-19].

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