Determinants of Linkage to Care in a New Newborn Screening Care Program for Sickle Cell Disease in Ghana, West Africa

Background

Sickle cell disease (SCD) is a significant public health concern in Ghana, with reported birth prevalence as high as 2% in the general population. Newborn screening (NBS) is crucial for early diagnosis and prompt management of the disease, which can significantly improve health outcomes for affected children and avoid early deaths. However, the benefits of NBS can only be achieved if diagnosed infants are successfully linked to SCD clinics and receive specialized care. Previous pilot work in Africa has shown that only approximately 50% of diagnosed infants with SCD are linked to care and longitudinally followed, diminishing the impact of early disease diagnosis. In 2023, a new NBS program for SCD was initiated in a tertiary facility, Tamale Teaching Hospital (TTH), in northern Ghana, and new diagnoses referred for SCD specialized care. Here, we report the early outcomes of care linkage in our program and explore barriers and facilitators to care engagement among newly diagnosed infants with SCD. We hypothesize that linkage to care among newly diagnosed infants with SCD would be robust with over 80% of diagnosed patients presenting to the first scheduled clinic appointment.

Methodology

Using the HemoTypeSC^TM point-of-care test kit, we screen all neonates delivered in the TTH and infants up to 9 months of age attending the child welfare clinic of the hospital. The HemoTypeSC^TM kit detects hemoglobin variants AA, AS, AC, SS, SC, and CC within ten minutes using whole blood samples collected through the heel prick. A research associate performs the test and provides pre and post-test counseling to all families, with an option to opt out if the families do not want their infants to be tested. Families of infants diagnosed with Hb SS or SC are further counseled on the diagnosis and management of SCD and enrolled in the clinic for continued follow-up. Written consent is obtained from families to recruit cases into the longitudinal follow-up. Our SCD clinic team keeps a log and contacts of families of cases and sends regular reminders through phone calls to ensure families do not miss their appointments.

Results

To date, we have screened 4,121 infants during the first 41 weeks of the project. 2,914 (70.71%) were newborns and 1,207 (29.29%) infants. Male infants were 2,072 (50.27%) of the total screened. The genotype distribution was HbAA 3,085 (74.87%), HbAC 575 (13.95%), HbAS 365 (8.86%), HbCC 42 (1.02%), HbSC 45 (1.09%), and HbSS 11 (0.27%). 14 (0.34%) of the tests were invalid and repeated. This gave us a birth prevalence of SCD of 1.36% and a trait (HbAS/HbAC) prevalence of 22.8%. All families (100%) agreed that their children should be enrolled at the SCD clinic, and all families (100%) were contacted and reminded of their upcoming appointments. However, only 35 (62.5%) of the 56 SCD patients presented to the scheduled 6-week appointment. When re-contacted and asked about the failure to present, families cited various reasons for absence. Barriers to attendance to the clinic included: the child was doing fine, and there was no need to come to the clinic; the mother and/or father disagreed with the diagnosis and wanted to confirm from another source; the mother and/or father was a healthcare worker and felt comfortable managing patient on their own; and the family could not afford the medications, namely folic acid and penicillin, that would be prescribed to the patient. Demographic differences among those who did not link to care versus those who did include a higher percentage of patients with Hb SS (54.5% vs 45.5%), further average distance from healthcare facility (42.1 km vs 35.2 km), and higher percentage of primary caretaker having completed university (42.8% vs 34.3%) in the group that did not link to care.

Conclusion

In a new NBS program for SCD in Ghana, West Africa, a birth prevalence of 1.36% was detected, but only 62.5% were linked to care. While all families agreed to testing and enrollment in prospective follow-up, numerous barriers to linkage to care were noted and appear to reveal a strong role of low disease literacy and disease stigma. Our next step will be to investigate these barriers through rigorous qualitative research, including surveys and directed family interviews. Our ultimate goal is to design interventions and strategies specific to Northern Ghana, addressing cultural and awareness barriers to receiving comprehensive SCD care in a medical home.