Population Screening for Hemoglobinopathies

Annual Review of Genomics and Human Genetics
H W GoonasekeraV H W Dissanayake

Abstract

Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases. The main aim of screening is to reduce the number of affected births and, in the case of sickle cell disease, reduce childhood morbidity and mortality. Screening strategies vary depending on the population group, but a few common screening test methods are universally used. We discuss the salient features of population-screening programs around the globe as well as current and proposed screening test methodologies.

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Citations

Mar 23, 2019·Journal of Diabetes Science and Technology·David C Klonoff
Sep 12, 2019·British Journal of Haematology·Subarna Chakravorty, Moira C Dick
Oct 2, 2020·The International Journal of Health Planning and Management·Konathala GeethakumariBontha V Babu
Jan 25, 2021·Journal of Community Genetics·Sumedha DharmarajanAnita Kar
Feb 9, 2020·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·John E LevineNancy DiFronzo
Apr 23, 2021·Clinical Chemistry and Laboratory Medicine : CCLM·Iacopo IacomelliGiovanni Ivaldi

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Methods Mentioned

BETA
chip
electrophoresis
chips

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