Says ‘many, including the educated, are ignorant of their genotype’ 

By Ebele Orakpo

David and Rose have dated for five years and finally, they are ready to tie the knots. They passed through their church’s mandatory marriage counselling program and in the end, one of the requirements was to carry out a genotype test in a general hospital and submit the results to the church before they can be cleared to get married. The test was done and the results sent to the church directly from the hospital.

The two lovebirds were then invited to the Pastor’s office and the Pastor said: ”I am sorry, you cannot get married to each other.” ”Why?” asked the couple in unison. The Pastor said: ”Both of you have the AS genotype so you carry the sickle cell trait and may likely give birth to a child with SS.” They both have the AS genotype so it would be very risky for them to get married because the union will likely bring forth a child with full blown sickle cell disease, SCD.

Although it was a big blow to them, they had to take it in their stride, especially Rose who had lived with a sickle cell patient and saw first-hand the suffering of the child, the stress on the family and the drain on their resources as well as the effect on society as a whole. Perhaps, she would have gone ahead with the marriage were it not for this experience.

In this report, Prof. Cyril Otoikhian, a professor of Genetics at the Novena University, Ogume, Delta State, speaks on the importance of knowing ones genotype, false results and the way forward.

Excerpts:

Sickle cell disease is described as a ‘group of inherited red blood cell disorders that affect hemoglobin, the protein that carries oxygen through the body. Red blood cells are normally disc-shaped and flexible enough to move easily through the blood vessels. In sickle cell disease, red blood cells become crescent- or sickle-shaped due to a genetic mutation. These cells do not bend or move easily and can block blood flow to the rest of the body.”

Prevalence

Nigeria is said to be the most sickle cell-endemic country in sub-Saharan Africa having between two and three per cent of the total population affected. According to Nigeria’s Health Ministry, ”every year, an estimated 100,000 children are diagnosed with the condition in Nigeria, and up to 80% die before they turn five. The estimated national average under-5 mortality for children with sickle cell disease born between 2003 and 2013 was 490 per 1000 live births.”

Genotype

According to Professor Cyril Otoikhian: ”During an outreach session with members of the National Youth Service Corps, NYSC in their camp in Edo State a few months ago, I had the privilege of interacting with the corps members. My question was simple: ‘How many members do we have here?’ The answer was over 1,700 members.

“My next question was ‘how many of you know your genotype?’ To my surprise, those that raised their hands were far less than two per cent of the population. This implies that Nigerian university graduates, among whom were medical doctors, do not know their genotype.

“Genotype is simply the genetic makeup of an individual. This comes in three combinations namely: AA, AS and SS. AA represents normal genotype, AS basically refers to the trait or carrier while SS is the sufferer.

Inability of an individual to know his or her genotype before marriage puts such a person at risk of producing an SS child.

“Let me say it here that the cost of maintaining a child with SS genotype combination is far more than what it will take to ensure a luxury life for an AS or AA child.”

False genotype results

Speaking on false genotype results, Otoikhian said: “The issue of fake laboratory results has shown the level of man’s inhumanity to man. With such false results, the couple would confidently go into marriage and later bear the consequences of birthing a sickle cell child.

“There is an urgent need for Nigeria’s legislative body to enact laws that will punish such dubious act of giving fake genotype results to unsuspecting persons thereby encouraging wrong pairing. Also, potential couples must be encouraged to seek such services in accredited laboratories and where not readily available, they should do same in at least three different laboratories and compare results to avoid the possibility of being given fake laboratory results. All government-owned hospitals should as a matter of urgency, establish Genotype unit to stop fake results being produced by some substandard laboratories across the country.”

Eradicating SCD

Otoikhian noted that the best way to eradicate sickle cell disease is for everyone to know their genotype.

“Knowing your genotype is the first key towards sickle cell eradication since it protects potential parents on the choice of their partners. That good and perfect choice brings about a downward graph in sickle cell prevalence.

 “If you know nothing about your genotype, you are bound to make a wrong choice that will birth another child that will face that stressful and pain-loaded life, not to mention the discrimination the child will face among his or her friends.”

 Way forward

Although some sickle cell disease patients can be cured using stem cell or bone marrow transplant, they are often not carried out because of the serious risks involved. Otoikhian, however, believes that avoidance is the only permanent cure for sickle cell disease. 

As a way forward, the professor of genetics says awareness campaign on sickle cell anaemia management and the need to compel citizens to know their genotype, should be encouraged in all tiers of government.

 ”Cost of genotype testing can also be subsidised by government as part of governmental drive to stop or reduce prevalence.

“Study of genetics should be included in academic curriculum at all levels to raise people’s awareness about sickle cell anaemia. Laws prohibiting marriage between AS x AS, AS x SS and SS x SS must be put in place to end reproduction of more S genes within our populace. Such laws must carry punitive measures to ensure compliance.”

He believes that with these measures in place, the society will witness a reduction in the level of S gene prevalence either in heterozygous or homozygous combination.”

He commended the effort of the Edo State NYSC, calling on others across the country to replicate same and called on everyone to join hands to stop the monster called sickle cell anaemia.

Perhaps, if Rose and David had known their genotypes, they would not have allowed themselves to fall in love with each other thereby avoiding the emotional pain.   

“My simple appeal to all is to know their genotype before marriage to avoid giving birth to SS child,” said Otoikhian.