Grace, 27, sat quietly in the hospital waiting room, her fingers nervously tracing the edges of a small purse. Just months earlier, her life had taken an unexpected turn.
Her blood genotype had been revealed as AS, as with her fiancé. Their church’s marriage committee wasted no time in denying them approval to wed, warning of the dangers of producing children with sickle cell disease.
Grace thought something was amiss about the result, so she made the trip from Kaduna to the Sickle Cell Foundation in Lagos for another test. There, she learnt that her blood belonged to a rare group known as AC.
While most conversations about genotype in Nigeria focus on AA, AS, and SS, there are several less common variants such as AC, SC, and CC.
Beyond these, Ugwujah Chikwesiri of the University of Nigeria Teaching Hospital notes that there are other forms like HBD, HBB-Tal, and “B-thal,” though the C variant remains the most commonly seen after S.
These variants are all classified under haemoglobinopathies.
Why the misdiagnosis?
Experts say Grace’s story is not unusual. Madukoma Goodfortune, a doctor at a General Hospital in Obubra, explained that many Nigerian laboratories rely on basic sickling tests, which do not identify the variant of haemoglobin present in the blood.
“In advanced centres, methods like haemoglobin electrophoresis or genetic testing are used, and these can pick up the uncommon ones: AC, SC, CC,” he said.
Chikwesiri further added that less sensitive tests, such as the sickling test or solubility test, are prone to errors, advising would-be couples to seek better testing.
In addition, testing babies under six months can also cause errors because their blood still contains foetal haemoglobin, which masks the true picture.
Accurate diagnosis using advanced methods like high-performance liquid chromatography (HPLC) or capillary electrophoresis is crucial for proper classification and effective genetic counselling.
How Common Are They?
National and regional studies reveal just how uncommon these genotypes are.
A study on Hemoglobin Phenotypes in Nigeria: Data From a National Reference Laboratory conducted large-scale analysis of more than 6,800 blood samples in Nigeria found that while AA accounted for 59.4%, AS for 23.3%, and SS for 13.3%, the rarer AC was only 2.1%, SC 0.9%, and CC just 0.2%.
Another study among students in Ogbomoso reported a slightly higher presence of AC at 5.3%, but still a fraction compared to the dominant AA and AS groups.
In Uyo, researchers reviewing over 8,000 cases at a teaching hospital found AC to be only 0.2% and SC a rare 0.04%.
Chikwesiri added that distribution differs across Africa. “In Burkina Faso, for instance, between 12% and 24% of the population carry the C gene. In Nigeria, it is more common in the West, where up to 6% have the variant, compared to 1–2% in the East.”
This geographical unevenness partly explains why many Nigerians remain unaware of its existence.
These figures make it clear that while millions of Nigerians carry the well-known AA and AS genotypes, rare ones like AC or SC occur in only a tiny fraction of the population. Yet for the individuals who discover them, it often happens by chance.
When she returned to her church with the corrected result, Grace expected relief. Instead, she was met with judgement. The committee, unfamiliar with the AC variant, dismissed her condition as no different from AS. The wedding was once again forbidden.
“It was as though my love had to pass a genetic exam it could never win,” Grace said.
What AC really means
Chikwesiri explained that beyond the well-known AA, AS, and SS, there is also the C variant of haemoglobin.
“For the C variant,” she notes, “it’s almost very similar to sickle cell, except that while the S gene has valine encoded for position 6 of their haemoglobin gene, the C gene has lysine instead. Because of that, the C variant behaves very much like sickle cell, but as a milder form.”
This genetic shift gives rise to several combinations. “The C variants can occur in the form of AC, CC, and SC,” Chikwesiri explained. Individuals with AC, she emphasised, are typically healthy: “If you’re AC, it’s just the same thing as having AS. You will not have any crisis. You’ll be asymptomatic. There’ll be no crisis.”
She clarified further: “CC usually has some features; occasional painful crises, but not frequent. Sometimes there may be eye changes or hip joint problems, but these are far milder than SS. In fact, people with CC often grow normally without the malnourished look sometimes seen in SS children.”
She emphasised that of the three (AC, SC, CC), SC is the most dangerous. “It is a nasty combination of S and C, and although it is not as severe as SS, it should be avoided just as much. Couples must never assume that because it is not SS, it is harmless.”
What distinguishes the C variant most is how it behaves in the blood. Sickle cell pain crises occur because the haemoglobin “polymerises, becomes insoluble, and blocks the small blood vessels,” causing recurrent bone and joint pain.
Goodfortune described the risk simply: “It is almost the same danger as AS marrying AS. Every pregnancy carries that one-in-four possibility.”
Silence and Stigma
Part of the problem lies in awareness. In most Nigerian communities, the conversation about genotype compatibility stops at AA, AS, and SS. Rare types like AC are often dismissed or misunderstood.
Some families even doubt their existence, suspecting patients of hiding their “true” status.
This ignorance has fuelled myths. Many believe that those with SC are not “real” sickle cell patients because they fall sick less frequently.
Yet, doctors warn that while SC may be milder, it still comes with serious health risks such as splenic damage, anaemia, and occasional bone problems.
A popular Big Brother Naija star, Olamilekan Massoud Al-Khalifah Agbeleshebioba, the winner of BBNaija season 5, once revealed he was SC, sparking a public debate.
Many argued that SC must not have sickle cell since he looked healthy and was rarely sick in the house.
However, this perception is dangerous. “If you are SC, you are sickle cell and must be treated like one, especially in marriage decisions,” said Chikwesiri.
Awareness and compassion
Better education is the key to preventing stories like Grace’s. Public enlightenment through radio, television, and church platforms could help communities understand rare genotypes and their implications.
In a religious country like Nigeria, health messages from faith leaders could go a long way in replacing fear with compassion.
Chikwesiri stressed that the conversation must move beyond the narrow AA–AS–SS narrative.
“There are other variants in circulation, and pretending they don’t exist will not stop couples from encountering them,” she said. “What we need is accurate testing, counseling, and above all, compassion in decision-making.”
Both doctors agree that the bottom line in genetic counselling is simple: every child must inherit at least one A. “Anything that doesn’t guarantee an A, whether AS with AS, AC with AC, or AS with AC, should be avoided,” Chikwesiri warned.
Grace’s dilemma
Today, Grace finds herself caught between conviction and compassion.
“I don’t want to throw away what we have because of something I cannot change,” she said amidst tears. “But I also don’t want to bring a child into the world to suffer what I know I can prevent.”
Her faith community remains divided. Some encourage her to go ahead, believing that God’s mercy will shield the future. Others warn that true faith does not tempt fate.
Grace admits the weight of the decision keeps her up at night. “My heart says yes, but my mind says be careful,” said Grace, who has resolved to go ahead with the marriage in another church.
For her, this is both a step of faith and an act of defiance against the stigma that has trailed her.
Her journey reflects the tension that many young Nigerians face: balancing love, faith, and science in a culture where genotype is more than biology but is destiny, choice, and sometimes heartbreak.
*Names have been changed to protect source’s identity.
Grace, a 27-year-old Nigerian woman, faced unexpected challenges when her genotype was misdiagnosed, leading to the prohibition of her marriage by the church due to the fear of having a child with sickle cell disease. Initially identified as AS, Grace discovered through advanced testing that her genotype was AC, a rare variant that behaves similarly to AS but is not commonly recognized in Nigeria. This highlights a broader issue of genotype misdiagnosis caused by reliance on basic tests rather than advanced methods capable of identifying rare variants such as AC, SC, and CC. The lack of awareness and understanding about these variants has led to stigma and myths, leaving individuals like Grace navigating complex decisions about love and genetics.
Studies reveal that while common genotypes like AA, AS, and SS dominate, rare variants like AC, SC, and CC constitute a small fraction of the population, yet their implications remain significant on individual lives. The misperception of SC as non-threatening risks misleading the public, as SC carries serious health risks mirroring a mild form of sickle cell disease. Improved public education, accurate testing, and compassionate counselling are crucial to addressing these misconceptions and helping individuals make informed genetic decisions. Despite church opposition due to genotype misunderstandings, Grace chooses to marry elsewhere, reflecting a broader cultural tension between love, faith, and scientific understanding within genotype considerations.
