Thirty years after Ghana began newborn screening for sickle cell disease, fewer than 15 per cent of newborns are screened, prompting health experts to call for a fully government-funded national programme to expand access to early diagnosis and treatment.

The experts warned that the programme, which remains heavily dependent on external funding, risks losing decades of progress unless the government commits sustainable resources to ensure that every newborn can be tested.

The call was made at an event organised by the Newborn Screening for Sickle Cell Disease Programme of the Department of Child Health at Korle Bu Teaching Hospital, in collaboration with Maamobi General Hospital and Princess Marie Louise Children’s Hospital.

Held under the theme, “Celebrating Three Decades of Newborn Screening for Sickle Cell Disease in Ghana,” the event also honoured the late Prof. Kwaku Ohene-Frempong, a pioneer of the programme who died in 2022.

Director of the Global Sickle Cell Disease Network at SickKids in Toronto, Canada, Prof. Isaac Odame, said approximately one in every 50 babies born in Ghana had sickle cell disease, with an estimated 16,000 affected newborns annually out of roughly one million births.

He noted that limited screening coverage meant that many affected children remained undiagnosed, with only about one in 10 babies with the condition being identified.

Prof. Odame said early diagnosis and appropriate medical care could significantly improve survival, enabling nearly all affected children to live into adulthood with timely intervention.

He cautioned that children who remained undiagnosed and untreated faced a substantially higher risk of dying before their fifth birthday.

He therefore called on the government to establish a sustainable, nationally funded screening programme integrated into existing primary healthcare services, including immunisation and child welfare clinics.

He also urged the authorities to incorporate sickle cell screening into the Free Primary Health Care Initiative, which covers conditions such as hypertension, diabetes and mental health problems.

According to him, modern point-of-care testing technologies could deliver results within eight to 10 minutes, making screening more accessible and easier to integrate into routine healthcare.

He explained that Ghana already had an established primary healthcare system that reached large numbers of newborns through immunisation services, providing a practical platform for nationwide screening.

Prof. Odame further warned that continued dependence on foreign funding could jeopardise the programme’s progress if international partners withdrew their support. He advocated greater recognition of sickle cell disease as a non-communicable condition affecting children, arguing that it deserved attention alongside diseases that predominantly affect adults.

Three decades of progress

Ghana’s newborn screening initiative dates to 1991, when Prof. Ohene-Frempong, then working at the Children’s Hospital of Philadelphia in the United States, and Prof. Nkrumah applied for a grant from the US National Heart, Lung, and Blood Institute.

A sickle cell clinic was established at Komfo Anokye Teaching Hospital in Kumasi in 1992. The grant was awarded in 1993, and a newborn screening laboratory was established at the Noguchi Memorial Institute for Medical Research the following year.

Screening began in Kumasi in 1995 and was extended to Tikrom in 1997.

By the end of 2018, a total of 498,618 babies had been screened, of whom 8,511, representing 1.71 per cent, were diagnosed with sickle cell disease.

Approximately half had the SS form of the disease, while nearly half had the SC form.

Although Ghana adopted newborn screening as a national policy in 2010, implementation remained limited to Kumasi and Tikrom until 2017, when funding from Pfizer, channelled through SickKids, supported the introduction of screening at Korle Bu Teaching Hospital in Accra.

Subsequent support from the Clinton Health Access Initiative, the Bill & Melinda Gates Foundation and Open Philanthropy helped extend screening services across all 16 regions of Ghana and supported expansion efforts in Nigeria and India.

Other organisations that have contributed to the programme’s expansion include SickKids, Novartis, St. Jude Children’s Research Hospital and the American Society of Hematology.

Despite these partnerships, experts say the challenge remains ensuring that screening is consistently available to every newborn, regardless of location or family income.

Dedicated staff improve screening coverage

Head of the Department of Child Health at Korle Bu Teaching Hospital, Prof. Catherine Segbefia, said the hospital’s experience had demonstrated that relying on midwives and public health nurses to conduct screening alongside their routine duties was insufficient to achieve comprehensive coverage.

She explained that the hospital began employing dedicated screening nurses in 2018 and subsequently expanded screening to its neonatal intensive care unit and postnatal clinic to identify babies who might otherwise be missed at birth.

A mobile application developed with support from Novartis had also helped speed up the processing and communication of screening results, she added.

These interventions increased screening coverage to nearly 100 per cent of babies born at Korle Bu, with approximately 1.8 per cent testing positive for sickle cell disease.

Prof. Segbefia noted, however, that the COVID-19 pandemic disrupted the programme and affected the enrolment of newly diagnosed babies into follow-up care. During that period, only about a third of 90 identified babies were enrolled in the clinic.

To improve the programme’s long-term sustainability, she said steps had been taken to transfer screening staff onto the government payroll and establish a fund to support families unable to afford testing or treatment.

The programme has also expanded to Jamestown Maternity Home and, in 2024, Maamobi General Hospital.

A published review of Korle Bu’s early screening outcomes highlighted the difficulties of ensuring that every diagnosed child receives continuing care. Of 74 babies who tested positive, 55 were enrolled in the clinic, 10 missed appointments, five could not be traced and four had moved away.

The findings point to the need for stronger follow-up systems to ensure that children diagnosed through screening remain connected to appropriate healthcare services.

Early diagnosis critical to survival

Haematology nurse specialist Diana Dwuma-Badu explained that newborn screening involved collecting a few drops of blood from a baby’s heel, with the mother’s consent, and sending the sample to the Noguchi Memorial Institute for Medical Research for testing.

She said results typically took between two and six weeks.

Babies diagnosed with sickle cell disease were referred to a specialised clinic, where their parents received counselling and the children were enrolled in care, she explained.

Treatment could include medicines such as hydroxyurea and penicillin to help prevent complications and improve health outcomes.

By ZEENATU ABUBAKAR, Accra