Newborn screening for sickle cell disease in Kisangani, Democratic Republic of the Congo: an update

Abstract

ABSTRACTBackground Neonatal screening is the first action necessary to identify children with sickle cell disease (SCD) and thus ensure their care. Using rapid tests to give an immediate result to families is a new resilient approach of great interest. These two aspects are essential for establishing an adequate health policy for this disease. This study was undertaken in Kisangani to update the current incidence of neonatal SCD.Methods Heel prick blood samples of 1432 babies born from different racial groups of parents living in Kisangani were collected at birth and screened using a point of care test, i.e. the HemoTypeSCTM.Results The incidence at birth was 2.2% (n = 31; 95% CI: [1.5%−3.1%]) for HbSS homozygosity and 21% (n = 303; 95% CI: [19%−23%]) for HbAS heterozygosity. Compared to a previous study in 2010; the incidence at the birth of the HbSS form has doubled, while that of the heterozygous form HbAS remained almost unchanged. The inter-ethnic incidence of HbSS among the five top-represented ethnic groups was significant (<0.001).Conclusion The prevalence of homozygote form has doubled compared to the 0.96% reported in 2010. Setting up a neonatal screening program and an awareness unit is necessary to assess the need for care services correctly.

Keywords

• Sickle cell disease
• neonatal prevalence
• HemoTypeSC
• Kisangani