By Ebele Orakpo
“I am fed up. I am going back to my home town with my children; at least family and friends will always be at hand to assist me when the need arises. I thought joining my husband in Lagos will bring about the much needed relief but no, he is out of town most of the time so I am left alone to take care of the two kids and myself.
What happens if two or three of us have crisis at the same time! I shudder to think about that.” These were the words of Mrs Zulia Hassan (not real names), a mother living with sickle cell disease, SCD, with two kids also living with SCD.
Almost every week, one of them is hospitalised. Although they knew their genotypes, they still got married knowing the consequences because the husband said he couldn’t jilt her as that would have been cruel based on his religious belief. Now, is bringing innocent children into the world to suffer not worse cruelty?
Tomorrow, June 19, is World Sickle Cell Day so your favourite Saturday Vanguard, in this report, brings you the views of experts on the dreaded genetic disorder, why it is called Black man’s disease, effect on economy and management/eradication. Excerpts:
Sickle Cell Disease, SCD
Sickle cell disease, SCD, according to Prof. Cyril Otoikhian, a professor of Genetics at the Novena University, Ogume, Delta State, is a “genetic disorder that begins the moment two genetically incompatible individuals – male and female – agree to contribute genetic materials that will kick-start another life. This decision gives birth to that genetic chromosomal combination that is classified as homozygous haemoglobin S combination called SS or sickle cell anaemia genotype.
“Such combination of genetic materials in humans results in periodic loss or life-threatening shortage of oxygen in the red blood cells, RBCs, that are responsible for the circulation of oxygen in the body. This inadequacy of oxygen in the RBCs results in depressed condition of the RBCs thereby changing their shape from the God designed spherical shape to curved shape, depicting a change from normal, hence referred to as a mutagenic condition.”
Continuing, Prof. Otoikhian said: ”When this condition occurs, the resulting sickle shape from which the name, sickle cell anaemia, was derived, leads to clustering of the sickle cells and blockage of flow of RBCs along the veins, leading to pains.
When I say pains, the pain you feel from placing a red hot electric iron on the skin, is nothing close to what I am talking about. This is referred to as crisis in sickle cell management. The erupting pain is inexplicable and life-threatening.”
The Professor of Genetics noted that crisis in SCD is periodic and varies from one innocent heart (as they are referred to in the Erikpejaiye Otoikhian Foundation, eofoundation, for the needy which cares for persons living with SCD) to another.
“This is because several environmental factors account for this variation of crisis rate and severity as well as termination of life which is very common.”
Disease of the black race?
Speaking on the myth behind calling SCD a black man’s disease, Prof. Louis Egwari, Professor of Microbiology and Director, Research & Training, QSM Training & Consulting Ltd, Lagos said: “The myth was that malaria was an age-long and deadly disease suffered by Africans who dwelt in areas heavily infested with the female anopheles mosquito which carries plasmodium, the malaria parasite. The parasite attacks mainly RBCs, from where they infiltrate the liver, multiply and return to the circulatory system and the cycle continues.
“Over time, studies on the histology of RBCs revealed a significant evolution of a sickle-shaped RBC rather than the disc-like or concave shaped RBC, among successive generations of blacks that dwell in mosquito endemic regions.
”As a result of this alteration in shape of the RBC, the malaria parasite could no longer penetrate the cell to cause malaria. So, in the absence of a malaria drug, the body immune system tries to help the situation,” said Egwari. Talk about survival strategy! This reminds one of Eneke the bird in late Prof.
Chinua Achebe’s evergreen novel, Things Fall Apart which said that ‘Since men have learned to shoot without missing, he has learned to fly without perching. As Newton’s Third Law of Motion says: ‘For every action, there is an equal and opposite reaction, “so this evolution was simultaneously catalysed by a genetic mutation in the RBC genotype which was AA to AS,” said Egwari. In other words, the immune system in fighting malaria, created another monster, the AS genotype.
“The benefit that the sickle gene could have against the malaria parasite was overridden by the catastrophic mutation that resulted in RBCs becoming inefficient transporters of oxygen. That is why SCD patients suffer from respiratory crisis,” noted Egwari.
Prof. Otoikhian, however, described the statement that SCD is a disease of the black race as stigmatising and unscientific, noting that: “All humans are genetically same whether black, white or chocolate. This is so because the 23 pairs of chromosomes that combine to produce the black race also combine to produce the white and the chocolate. Saying that SCD is a black man’s disease is outrightly false.”
“What the white race did differently that made them regard SCD as black man’s disease is simply selection. In genetics, selection means possible likelihood to be admired and hence allowed to continue.”
Explaining further, Otoikhian said: “The white discovered the disorder and selected against it by simply enacting laws prohibiting persons from marrying without genotype testing. This simple analysis of the gene pairs led to the prevention of the regeneration of the SS pair that solely results in SCD. Laws were enacted, preventing marriages between disadvantaged genotypes.
‘NO to AS marrying AS; AS marrying SS and SS marrying SS,’ these are the only possible ways that an SS child can be given birth to. By these laws, the white race was able to bring the prevalence to zero per cent and having achieved that, they named it a black man’s disease.” He said it was done out of envy, lack of knowledge and an attempt to stigmatise the black race.
Why SCD persists amongst blacks
Lack of right knowledge about SCD; lack of technical knowhow, wrong traditional perceptions about SCD, trading volume on SCD, African governments’ negligence in the area of genetic disease control (by refusing to make provisions for persons living with the disorder by low or no advocacy on its eradication which is 100% possible), among others, were some of the reasons adduced by Otoikhian for the seeming prevalence of SCD among blacks. He noted that in the past, SCD patients were referred to as abiku, ogbanje or Come & go due to the fact that most died at very early age because of lack of knowledge about genetic principles.
Prof. Otoikhian regretted that although sickle cell management is simple and must be implemented with all sense of sincerity, unfortunately, “till date, management of SCD remains in the hands of untrained and fraudulent persons parading themselves as specialists in sickle cell management; defrauding the same persons who from birth, are prone to massive excruciating pains that make them beg for death when it comes knocking in the odd hours of the night and on rainy days.
”Management includes taking care of crisis that has been triggered and also preventing the occurrence of more crises by making efforts to make oxygen available in the blood cells. “
He advised those living with sickle cell anaemia to visit www.eofoundation.org for help.
“Since the only permanent remedy is prevention, attention should be focused on a massive enlightenment campaign from the grassroots upward.
The NGOs should wake up to their responsibility; the religious bodies should ensure marital union satisfies the genotype requirement. All means of national identification should provide for this. In unity, we shall win this battle against SCD,” noted Egwari.
Otoikhian reiterated the fact that SCD is “a genetic disorder and such aberrations are irreversible hence, SCD has no CURE, avoid it by knowing your genotype before you say ‘I do.’ He, however, said that SCD can be completely eradicated.
“All you need do is know your genotype before marriage to avoid that pairing of genetic materials that will result in SS gene pairs.
He urged government to declare a state of emergency on sickle cell management if it must be eradicated. “This is necessary to avoid the future astronomical rise in its prevalence with some African countries having up to 60-80% of their population living with at least one S gene which depicts a carrier status.
“The marriage of two carriers or a carrier and one sufferer can only result in the birth of another child with SCD. For those living with it, seek the right knowledge and management principles,” he advised.
Nigeria’s SCD patient population
On the population of SCD patients in Nigeria, Egwari quoted an excerpt from an article by Prof. O. O. Akinyanju titled: A Profile of Sickle Cell Disease in Nigeria: ”Nigeria has a population of 112 million with an annual growth rate of 3.2%. About 25% of adults throughout the country have the sickle cell trait, AS, while the Hb C trait is largely confined to the Yoruba people of Southwestern Nigeria in whom it occurs in about 6%”.
“By simple arithmetic, if you know the population of Nigeria as of 2022, you can calculate the number of adult Nigerians living with the AS genotype and then project actual SCD patient population. A marriage of heterozygous couples (AS × AS) will produce offspring at the ratio of 2AS:AA:AS. When an AA marries an SS, all the offspring will be AS.
The implication for a society dominated by the AS genotype include increased investment in Health sector, economic downtime due to absenteeism from the workplace, low productivity and serious family crisis. The nation will be in chaos.
Consequently, there will be a jump in population of SS with corresponding decrease in the AA genotype. As this trend progresses, the people become weaker and thus the strength of the nation is gone.”
My Experience – Ella
Sharing her experience as a person living with SCD, Chidalu Emmanuella Nsiegbunam popularly known as Sickle Cell Queen said: “Growing up as a child, I knew there was something wrong with me but couldn’t explain.
Even when I tried to explain, I made no sense and that made it impossible for my family to understand. I kept breaking all our breakable plates because they were very heavy for me even when they actually were not, I couldn’t lift a one litre can at age six, got tired easily and cried a lot because of pains but Mom and siblings thought I was just being lazy and giving excuses to avoid doing chores.
“Life continued just as it was until 1997 when my brother died. I was just eight years old then and because he protected and loved me specially, it was difficult for me to stop crying without knowing that I was emotionally stressing myself until a sudden change in colour, weakness, swollen and painful joints.
Two days after his burial, I was rushed to the hospital in my hometown. The doctor asked my parents if they are unaware that I was living with sickle cells. I can still picture how surprised my mom was and how she maintained that the doctor didn’t know what he was saying. My dad on the other hand, didn’t look surprised but had a mixture of disappointment and regrets. I wasn’t sure what was happening because I didn’t even know what living with sickle cell was but I kept watching the drama.
“Mom started asking dad why he was not speaking up, that he should tell the doctor how they went for genotype test and were told they were compatible. Instead, dad lowered his head and confessed that his friend who works in that General Hospital lab warned him but he pleaded and had the result manipulated because he didn’t want to lose her. Here I am, a victim of that manipulated result I was treated and discharged after some days in the hospital, I was taught what sickle cell is and even though I didn’t understand it, I adhered to the do’s and don’ts and the new lifestyle I was introduced to. I go with the sayings: Love is never enough and I stand with genotype before love.”