Newborn screening for hemoglobinopathies: a review of Canadian data from 2020 to 2023

Objectives Newborn screening (NBS) for hemoglobinopathies continues to grow in Canada. This study aims to describe the current diagnostic rates of hemoglobinopathies and hemoglobinopathy carriers through NBS programs in Canada, which has never been reviewed comprehensively across the country. Methods We requested collaboration from provincial or territorial NBS programs in Canada on this cross-sectional study which included screening data from January 1, 2020 to December 31, 2023, inclusive. The data collection encompassed screening for hemoglobinopathies (including sickle cell disease, thalassemia, and other variants), hemoglobinopathy carriers, and relevant laboratory information. Results 90% of Canadian newborns were screened for hemoglobinopathies by NBS between the study dates. On average, 1 in 2000 newborns is diagnosed with a hemoglobinopathy by NBS across Canada. Sickle cell disease (SCD) (including HbS/S, HbS/C, HbS/β0, HbS/β+, and HbS/HPFH) was the most common outcome, affecting 1 in 2700 newborns. Thalassemia (including Hbβ0/β0, HbE/E, HbE/β0, and HBH) is diagnosed by NBS at a rate of 1 in 10,000 newborns. NBS additionally identifies 1 in 72 newborns as a carrier of a hemoglobinopathy. Sickle cell trait is identified in 1 in 118 newborns. Conclusion This study established hemoglobinopathy and carrier identification rates among children born in Canada essential in establishing the epidemiology of SCD, Thalassemia, and other hemoglobinopathies. When compared with previous publications, the findings of this study suggest an increase in the incidence of SCD in Canadian newborns over time.