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Updated: Sep 10, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Newborn Screening for Hemoglobin Disorders
1Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA; U.S. National Newborn Screening and Global Resource Center, 3907 Galacia Drive, Austin, TX 78759, USA.
Insights
Newborn screening for hemoglobinopathies has evolved since 1975, expanding beyond sickle cell disease. Limited screening in high-prevalence regions highlights global health inequities.
Area of Science:
- Medical Genetics
- Public Health
- Pediatrics
Background:
- Newborn screening for hemoglobinopathies, including sickle cell disease, was established in New York in 1975.
- Screening programs have expanded to detect various clinically significant hemoglobin disorders.
- Global disparities exist, with limited screening in high-prevalence areas like Sub-Saharan Africa, the Caribbean, and India.
Purpose of the Study:
- To review the historical development of newborn screening for hemoglobinopathies and thalassemias.
- To provide an update on current activities and trends in newborn hemoglobin disorder screening.
- To highlight global inequities in access to newborn screening for hemoglobinopathies.
Main Methods:
- Historical review of newborn screening programs for hemoglobinopathies.
- Analysis of screening scope evolution over time.
- Examination of geographical disparities in screening implementation.
Main Results:
- Newborn screening for hemoglobinopathies has progressed significantly since its inception.
- Screening now encompasses a broader range of hemoglobin disorders beyond sickle cell disease.
- Substantial gaps in screening coverage persist in key global regions.
Conclusions:
- Newborn screening for hemoglobinopathies has a rich history of evolution and expansion.
- Addressing global inequities in screening access is crucial for improving health outcomes.
- Continued efforts are needed to broaden screening for hemoglobinopathies and thalassemias worldwide.
Abstract:
Newborn screening for hemoglobinopathies began in New York in 1975. It has evolved through the years to include case detection not only for sickle cell diseases but also for many other clinically significant hemoglobin disorders. Hemoglobinopathy screening outside of the U.S. and parts of Europe are limited. Their absence in high prevalence areas of sickle cell diseases such as Sub-Saharan Africa, the Caribbean Islands and India illustrate the global inequities. Newborn screening for alpha-thalassemias is also limited. This report reviews some of the history of newborn screening for hemoglobinopathies and thalassemias and provides an update of related activities.
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