Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status—2026
A detailed report on the history and expansion of Newborn Screening for Hemoglobinopathies—beyond Sickle Cell Disease alone—across various countries worldwide.
Newborn bloodspot screening (NBS) began in Guthrie’s laboratory in 1961 for phenylketonuria. A federal study the following year formed the basis for expanding NBS as a public health function. Diseases detectable through NBS gradually expanded.
While NBS programs exist in most high-income countries, their implementation in low- and middle-income settings has been slow, with the inclusion of hemoglobin disorders occurring even more slowly.
Recent advances in curative treatments further emphasize the importance of NBS in early disease identification. This report reviews some of the history of newborn screening for hemoglobinopathies and thalassemias and provides an update of related activities currently ongoing globally.
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