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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

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy

Newborn Screening for Hemoglobin Disorders.

Bradford L Therrell¹

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.

Clinics in Perinatology

|August 24, 2025

Summary

This summary is machine-generated.

Newborn screening for hemoglobinopathies has evolved since 1975, expanding beyond sickle cell disease. Limited screening in high-prevalence regions highlights global health inequities.

Keywords:

Dried blood spots Hemoglobinopathies Newborn screening Thalassemias WHO

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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.