• Nigeria ranks top on the global burden of Sickle Cell Disease
• 150,000 babies are born with sickle-cell yearly
• 40 million Nigerians have sickle cell traits
• Experts advocate mandatory newborn screening, standardised testing protocols

As countries commemorate World Sickle Cell Day today, the pains of inaccurate readings, misdiagnosis, and falsified genotype results in Nigerian laboratories have reverberated across the health community, with fresh demands for standardisation.

The stakeholders said that despite improved education, counselling, and awareness creation on genotype pairing, new and old couples keep producing babies with “strange” sickle cell disease.

The epidemic, estimated at 150,000 newborns yearly and 40 million sickle cell trait carriers nationwide, is not unconnected to routine diagnostic failure, put at over 40 per cent.

Experts blamed the development on antiquated testing methods, lack of clinical expertise, fraudulent practices by unethical health workers, and individuals deliberately bribing technicians to alter AS results to AA ahead of marriages.

They warned that the increasing cases of inaccurate and fake genotype test results from Nigerian laboratories have become a major public health concern and have destroyed many relationships and marriages.

They, however, emphasised the need for strengthened laboratory oversight and standardised testing protocols to improve the accuracy of haemoglobin phenotype results; targeted awareness campaigns to encourage early phenotype screening; and enhanced public education to address misconceptions and improve knowledge of sickle cell disease in the country.

Just recently, Kawthar Abdulazeez, a mother of two, threatened to sue a laboratory after discovering that her genotype is SC, contrary to the AA result she received from the centre 13 years ago. Married to an AS partner based on that report, both their daughters have now been diagnosed with sickle cell SS.

Abdulazeez blamed the diagnostic centre for what she described as a life-altering mistake.

Another respondent, Adewole, would have suffered a similar fate. A private lab tested his genotype and found it to be AS.

“It wasn’t until a year before I graduated from the University that I was diagnosed with SC. This helped me in choosing a wife who is AA, and we have two healthy children now. The story of this woman is touching, and I can relate to her plight,” he said.

Adewole advised Nigerians to find out their genotype early and not rely on a single laboratory test.

A mother of three, Mrs Korie, who received an inaccurate genotype result and narrowly escaped having children with sickle cell disease, said, “The test said AA. I married AS. Got a job. For confirmation, the result came out AS. First pregnancy AS. God, who is always on my side, gave me three children; no sickle cell. I stopped at the third issue. May his name alone be glorified.”

Tragically, about 50 per cent of children born with SCD in Nigeria may not live to see their fifth birthday, mostly due to lack of routine newborn screening and delayed diagnosis.

In addition, about 40 million Nigerians, who represent between 21 and 25 per cent of the country’s population, are healthy carriers of the sickle cell traits AS, AC, or SC.

Sickle cell disease (SCD) is a genetic blood disorder that affects haemoglobin, the protein responsible for carrying oxygen in red blood cells.

Before the advent of modern medicine, high infant mortality from Sickle Cell Disease (SCD) in the country was misunderstood, as children with the disease were then perceived as Abiku among the Yoruba and Ogbanje among the Igbo and viewed as reincarnating spirits “born to die” in a cycle of grief.

Professor and Clinical Director of Haematology at the African Medical Centre of Excellence (AMCE), Abuja, Aisha Kuliya-Gwarzo, said that Sickle cell is 100 per cent preventable through informed reproductive choices.

Kuliya-Gwarzo, however, regretted that Nigeria continues to record high cases of children born with the condition due to lack of prevention uptake, including limited access to reliable genotype screening, cultural and religious influences overriding medical advice, inadequate and late premarital genetic counselling, low awareness and late testing.

She observed that discordant genotype results often arise from outdated or low-quality testing methods, poor laboratory standards, or a lack of quality control, as well as from testing during blood transfusion periods, which can alter results.

Kuliya-Gwarzo highlighted the importance of repeat testing at certified centres, pre-marital confirmatory screening and genetic counselling

Director of the Centre for Sickle Cell Research and Training in Africa (CESRTA), University of Abuja, Prof. Obiageli Nnodu, said that the low adoption of quality assurance management systems in the running of laboratories in Nigeria has led to many Nigerians having children with SCD, with even the little progress made in the area of premarital screening being undermined by the menace of inaccurate laboratory results.

She observed that the already high prevalence of SCD is further exacerbated by poor genotype testing and stressed the need to enhance advocacy for stringent quality control measures in genotype testing.

Nnodu noted that in a pediatric clinic in one of the states in Nigeria, 40 per cent of those with sickle cell disease who attended had incorrect laboratory results.

“So, how do we address this issue of quality assurance, because lack of quality assurance is also one of the key drivers of this burden of sickle cell in the country?”

She advocated for the introduction of universal screening starting from newborns “You screen people who are entering nursery, primary and secondary schools up to university, youth service, and when they apply for a driver’s license.”

President of the Association of Medical Laboratory Scientists of Nigeria (AMLSN), Dr Casimir Ifeanyi, noted that discordant genotype laboratory results are becoming commonplace, leading to serious public health challenges and affecting marriages and families.

He observed that haemoglobin genotyping is a delicate testing process, stressing that technology has become advanced in that area across the globe, but has remained largely guesswork in Nigeria

Ifeanyi noted that Nigeria has become a dumping ground for substandard chemicals, reagents, and equipment.

He blamed the situation on systemic challenges resulting from the government’s failure to properly regulate medical laboratories in Nigeria and the willful politicisation of the regulation of testing devices.

“In Nigeria, everybody performs and can perform testing. So that is why you have out there very, very fake, false, uncorrected haemoglobin genotype reports.”

Ifeanyi added that there are over 30,000 laboratories in Nigeria, but fewer than 10 per cent are managed by the MLSCN. 30 per cent of them are staffed by medical laboratory scientists, while less than 20 per cent are owned by medical laboratory scientists.

On her part, the Coordinator of Sickle Cell Foundation, Dr Annette Akinsete, lamented that Nigeria has the highest burden of sickle cell in the world.

Akinsete observed that most sickle cell patients and their families continue to pay out of pocket for health services, which is not sustainable.

“Many patients cannot buy medications prescribed for them. It is pointless if there’s no access to effective treatment for sickle cell. The only sustainable way is through health insurance”.

Akinsete decried the proliferation of unregulated medical laboratories nationwide, adding that many couples have separated or even divorced due to inaccurate genotype results issued by these laboratories.

“Many couples have separated or even divorced on account of this. Whereas there’s no cheating involved. No wife cheated. It’s just that they ran a test in an inadequately equipped laboratory, or they probably didn’t have the capacity. Or, on the other hand, it may have been fraudulent.”

Highlighting the need for strong regulation, Akinsete insisted that laboratories must be properly regulated so they don’t issue test results without the capacity to perform genotype testing.

Akinsete noted that the foundation works with the government to ensure that policies and guidelines are in place to boost access to treatment for patients with sickle cell through health insurance.

She noted that the Sickle Cell Foundation of Nigeria engages with the various states, houses of assembly, the senate, and the house of representatives to develop laws that will benefit the sickle cell community, especially regarding payment and access to treatment.
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