P1484: the danish screening program for hemoglobinopathies: a 16-year review

Topic: 28. Enzymopathies, membranopathies and other anemias Background: Screening programs for hemoglobinopathies have been present for decades in endemic areas but is lacking in many low-prevalence countries. Despite increasing prevalence of hemoglobinopathies in the Nordic countries, screening programs have yet to be implemented in most. The Danish screening program for hemoglobinopathies seek to detect parental carrier state of hemoglobinopathy antenatally by offering hemoglobinopathy testing through general practitioners to at-risk women of reproductive potential before 13th week of gestation. Aims: To evaluate the Danish hemoglobinopathy screening program over a period of 16 years, from January 2007 to December 2022, as a program suited for a low-prevalence country with an at-risk minority. Methods: Retrospective register-based study, using the laboratory database of the Danish Red Blood Cell Center as our source register, covering 77% of the Danish population. Results: During the study period, we observed more than a fivefold increase in the number of diagnostic examinations for hemoglobinopathies performed yearly, from 640 examinations in 2007 to 3,932 examinations in 2022, the majority in women of the reproductive age. We diagnosed 5,142 individuals with thalassemia trait and 871 individuals with sickle cell trait. 136 individuals were diagnosed with thalassemia intermedia/major, sickle cell disease, or Hb Bart’s. 61/136 were children born during the study period. 23/61 were born from mothers not living in Denmark during the 1st trimester of pregnancy and thus not available for the Danish screening program. Prenatal invasive testing for hemoglobinopathies was performed on 60 fetuses with 12 being homozygous/compound heterozygous for a serious hemoglobinopathy. Summary/Conclusion: The Danish screening program for hemoglobinopathies has provided diagnostics and a reproductive choice to a substantial number of women. Adherence to the screening program is a subject of further investigation and optimization. Acknowledgement: This project is carried out within the framework of European Reference Network on Rare Hematological Diseases (ERN-EuroBloodNet)—Project ID No 10108571. ERN-EuroBloodNet is partly co-funded by the European Union within the framework of the Fourth EU Health Program.Keywords: Screening, Sickle cell disease, Hemoglobinopathy, Thalassemia