Newborn screening for sickle cell disease in Butembo and Beni: a pilot experience in a highland region of the Democratic Republic of Congo.

Abstract

sickle cell disease is an inherited autosomal recessive hemoglobin disorder resulting in acute and chronic systemic complications. Despite the high burden of sickle cell disease in the Democratic Republic of the Congo, limited data on disease prevalence is available and systematic screening is not offered to newborns. This study aimed to provide neonatal prevalence and associated factors to the phenotypic manifestation of sickle cell disease in an eastern region of the Democratic Republic of the Congo. the study was conducted from 20th April 2021 to 20th January 2022 in the cities of Beni and Butembo, involving live full-term newborns whose parents consented to participate. Blood was taken with heel pricks and analyzed using the point-of-care diagnostic tool HemoTypeSC™. We used Fisher´s exact test to compare frequencies between groups. P-value <0.05 was considered statistically significant. Results: of the 1195 newborns screened, 1122 (93.9%) were tested as having hemoglobin AA, 71 (5.9%) hemoglobin AS, 2 (0.2%) hemoglobin SS and none hemoglobin C. The mother´s ethnicity was significantly associated with the phenotypic expression of sickle cell disease. sickle cell disease prevalence is lower in Butembo and Beni than in other regions of the Democratic Republic of the Congo. However, it remains an alarming public health issue. Systematic newborn screening, parent/patient education and early management programs constitute an urgent need to be addressed by decision-makers.