Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026

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, eventually including sickle cell anemia, which was included in the screening panel in New York in 1975. Universal inclusion of full population screening for sickle cell anemia was included in all US NBS programs by 2006. Through the years, NBS for sickle cell anemia has expanded to include other clinically significant hemoglobin disorders (both hemoglobinopathies and thalassemias). 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. It is particularly noteworthy that the low-resource settings with the highest incidences of sickle cell diseases (Sub-Saharan Africa, the Caribbean Islands, and India) and therefore the greatest potential for benefitting from NBS, continue to struggle with its implementation. 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.