Newborn screening for sickle cell disease

Sickle cell disease is associated with a significant risk of morbidity and mortality in infancy and early childhood if diagnosed too late. Of primary importance are life-threatening complications secondary to invasive infections with encapsulated bacteria and a sudden deterioration of anemia. Consequently, sickle cell disease has been a target disease of newborn screening programs in numerous countries, in some cases since the early 1970s. On 20 November 2020 the Federal Joint Committee decided to introduce newborn screening for sickle cell disease also in Germany. The following article gives an overview about the disease itself, screening logistics and methodology and the consequences that arise from a positive screening result.