Integration of newborn screening for sickle cell disease into primary health care in Bukavu, Democratic Republic of the Congo: a pilot study.

INTRODUCTION

Sickle cell disease (SCD) is an inherited genetic disorder that represents a major public health challenge in sub-Saharan Africa, particularly in the Democratic Republic of the Congo (DRC). This disease, characterized by an amino acid substitution in the beta-globin chain, requires early management to reduce serious complications and improve patients' quality of life. This study aimed to test the feasibility of integrating newborn screening for SCD into primary health care in Bukavu, in the DRC, to improve health outcomes for affected infants and reduce serious complications associated with the disease.

METHODS

A prospective cohort pilot study was conducted from November 2022 to December 2023 in 15 primary healthcare facilities in Bukavu. Mothers were screened for SCD at antenatal clinics and maternities. Blood samples from mothers and newborns were collected and tested using the HemoTypeSC™ point-of-care testing. Results were confirmed by Gazelle® electrophoresis in case of a positive result.

RESULTS

Out of the 6,353 sensitized mothers, 4,496 consented to undergo screening, resulting in an acceptance rate of 70.77%. Among them, 91.61% were HbAA, 8.16% were HbAS, and 0.22% were HbSS. Among the mothers with HbS, only 77 received follow-up until delivery, demonstrating the feasibility of the follow-up process. The findings revealed that out of the 77 newborns, 66.23% were HbAA, 29.87% were HbAS, and 3.90% were HbSS.

CONCLUSIONS

The integration of newborn screening for SCD into primary health care in Bukavu, in the DRC, has demonstrated feasibility and effectiveness in the early identification of affected infants. This initiative has the potential to mitigate the serious complications linked to the disease and enhance health outcomes for patients. These findings set the stage for broader adoption of this approach to address the implications of SCD on maternal and child health in the DRC.