World Sickle Cell Day: Newborn screening, early handling help tackle disease

Over 150,000 babies are born annually with sickle cell disease in Nigeria. The country is also ranked as the highest sickle cell disease…

Over 150,000 babies are born annually with sickle cell disease in Nigeria. The country is also ranked as the highest sickle cell disease endemic nation in Africa.

It also ranks first as the country with the highest burden, ahead of India and the Democratic Republic of Congo.

Data from the Federal Ministry of Health, show that Nigeria alone accounts for 66 per cent of the cases of babies born annually with sickle cell disorders in sub-Saharan Africa.

The World Health Organisation (WHO)  says,  over 300,000 babies globally are born annually with sickle cell disorders with over 75%  cases in sub-Saharan Africa.

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Sickle cell disease is a genetic blood disorder that affects a person’s red blood cells and is passed on from parents.

The disorder causes normal round and flexible blood cells to become stiff and sickle-shaped, which in turn stops the blood cells and the oxygen they carry from moving freely around the body.

As Nigeria joins the rest of the world to mark this year’s World Sickle Cell Day,  experts have called on parents, the government, health facilities and all stakeholders to prioritise genotype screening as well as early diagnosis and management of the disease.

They said doing so is important in saving the lives of babies born with the disease and effectively managing complications that come with it.

The theme of this year’s World Sickle Cell Day is  ‘Building and Strengthening Global Sickle Cell Communities, Formalizing New-born Screening and Knowing your Sickle Cell Disease Status’.

Prof. Obiageli Nnodu, a haematologist, said children born with the disease die early if they are not followed up with appropriate care.

She said, “More than half of babies born with sickle cell disease in sub-Saharan Africa will die before their fifth birthday. While 90% will die before attaining adulthood if poorly managed in childhood.”

Prof. Nnodu, who is also the director of the Centre of Excellence For Sickle Cell Disease Research & Training (CESRTA), University of Abuja, and the Nigerian National Coordinator of Consortium on Newborn Screening in Africa (CONSA), said many of the estimated 150,000 babies born annually with the disease in Nigeria do not live past the age of five because of lack of access to diagnostic testing and comprehensive care.

She said sickle cell disease is thus contributing to childhood under-five mortality which will affect the achievement of the health-related Sustainable Development Goals (SDGs) for high-burden countries if efforts at control are not instituted or expanded.

She said delivery systems for newborn screening are hospital-based and immunization clinics, among others.

According to the immediate past Minister of Health, Dr Osagie Ehanire, about 100,000 infants out of the 150,000 children born annually with the disease in Nigeria die from the disease, which is 8 per cent of infant mortality.

He said sickle cell disease thus significantly contributes to maternal, neonatal, infant and under-5 child mortality, and consequently undermined substantially, the attainment of millennium development goals in Nigeria and negatively impacts the attainment of SDGs.

Benefits of newborn screening, early intervention

Angel Solomon, the mother of a child with sickle cell disease, said her baby was screened a week after birth when she took her for immunization. She said after the test, medical intervention commenced for her immediately.

She said the child has been relatively healthy and she is grateful that she was diagnosed and started treatment early.

“I have benefited a lot from the early intervention because my baby is doing okay,” she said.

She added that there was a remarkable difference in the survival and health of babies who had early intervention and those who were diagnosed or commenced treatment at later stages.

Ibrahim Rukayat, the research nurse for  the Centre of Excellence For Sickle Cell Disease Research & Training (CESRTA), University of Abuja, said, “Newborn screening helps us to know the genotype of the baby, and once the baby is screened and diagnosis is made early management starts; which is by enrolling the baby in the hospital and other management such as counselling, health education, among others, in other to ensure the survival and health of the baby.”

She said babies born with the disease could develop complications and die within three to six months of birth.

“For instance out of the 136 babies that we have identified, seven are dead already. So based on the quantity of the sickle cell genotype in their blood, humans differ from each other – the rate some people may respond to malaria is quite different from others – so early management is important,” she said.

Ibrahim advised parents to key into the newborn screening programme, saying it also enables them to be sensitized on what to do to keep the baby healthy as management is not only drug-based but also involves, “taking natural things, especially in the young children like fruits, vegetables and other things that aid blood enrichment; and it is also important to abide by the advice of doctors and nurses.”

She said the programme also involves pre-test counselling as parents are counselled that the child should be enrolled at the facility so that doctors and nurses can be attending to it.

The Director of CESRTA, University of Abuja, Prof. Obiageli Nnodu, said the centre has trained health workers on newborn screening for sickle cell disease.

She said the health workers were drawn from primary health care centres (PHCs) in the Federal Capital Territory (FCT), comprising nurses, community health extension workers (CHEWs) and laboratory scientists.

She also said the Consortium on Newborn Screening for Sickle Cell Disease in Africa (CONSA) was launched on October 26, 2020, to demonstrate the effectiveness of newborn screening and early therapeutic interventions in reducing morbidity and mortality in early childhood for babies with sickle cell disease.

She said so far, “we have successfully screened a total of 15,676 babies from 22 sites in four local government areas across the FCT.”

Prof Nnodu said in spite of sensitization, some mothers were yet to bring their newborns for screening, or get them enrolled for treatment when found positive, adding that efforts were in top gear to address the challenges.

Dr Ehanire had said in recognition of the burden of sickle cell disease in Nigeria, the government empowered six Federal Medical Centres to set up dedicated clinics and programmes for specialised management.

He said the centres were equipped with high-performance liquid chromatography machines for early diagnosis in newborns; as early as on the day of birth.

These centres are located in Abakaliki (South-East); Birnin Kebbi (North-West); Ebute Metta (South-West); Gombe (North-East); Keffi (North-Central); and Benin (South-South).

He said the clinical management of patients with sickle cell disease is increasingly multi-disciplinary and complex, such that the Federal Ministry of Health developed a comprehensive national guideline for the control and management of the disease.

The document provides guidelines for the management of specific clinical problems and protocols for various therapeutic procedures including newborn screening.

He said additionally, point-of-care screening tests have been developed and validated by the National Institute for Medical Research (NIMR), including the NIMR biotech genotype machine, for early identification of sickle cell disease, especially neonatal cases.

He said, “The comprehensive care for sickle cell disease patients is very complex and multi-faceted, however, evidence has shown that the future of sickle cell disease control lies in discouraging conception between two healthy carriers of the disease, early identification of cases and enrolment into comprehensive care, and management with newer innovative drugs and technology.

“Renewed focus shall therefore be channelled into greater research in these areas.

“Sickle cell disease awareness creation and community mobilisation require scaling-up, while early identification and enrolment into comprehensive care are to be prioritised.”

Dr Ehanire said sickle cell disease, though endemic in Nigeria, can be prevented just like other non-communicable diseases.

“We must all, therefore, commit to ensuring a concerted effort to know our genotype and that of our family members before marriage. This will go a long way in supporting government efforts to reduce the prevalence of sickle cell disease in Nigeria,” he said.