Fighting sickle cell disease with premarital genotype test

Sickle Cell

sickle-cell

Sickle cell disease is a serious condition that affects people all over the world and the complications arising from it are usually fatal.

The condition is a set of red blood cell disorders that are mostly inherited.

Due to the rising prevalence of sickle cell anaemia in Nigeria, concerned medical experts have been calling on the three tiers of government to support the fight against the disease by promoting policies on genotype testing.

One of the experts, Prof. Adeyinka Falusi, President, Sickle Cell Home Alive Foundation (SCHAF), underscores the need for people to know their genotype before marriage.

She says that her foundation’s “Know Your Genotype” (KYG) campaign is particularly aimed at drawing the attention of the government and individuals to the prevalence of sickle cell anaemia in the country.

According to her, Nigeria has the highest number of people living with sickle cell disease and the highest number of healthy carriers of the sickle cell gene.

Falusi affirms that Nigeria has an estimated 4 million people suffering from sickle cell disease, adding that no fewer than 40 million persons have sickle cell traits; commonly known as AS.

“This is why we need to fight against the disease.

“The KYG campaign would be taken to schools, religious bodies and organisations to increase awareness on the importance of genotype screening.

“We want our youths to know the risks and consequences because there are still some people who lack information about sickle cell disease,” she says.

Falusi concedes that although there is no legislation preventing a person from marrying someone of his or her choice, it is still not advisable for two carriers of the sickle cell gene to make babies together.

“If children and teenagers can know their genotype as they are growing up; they will be able to make informed decisions later in life regarding marital choices.

“One need not wait till he or she is about to marry before screening for genotype,” she says.

Sharing similar sentiments, Mr Lanre Alege, a pharmacist in University of Ilorin Teaching Hospital, says research have shown that Nigeria has the largest population of people with sickle cell anaemia in the world.

He adds that no fewer than 150,000 babies are born with the serious medical condition every year.

Besides, Alege says it is estimated that only five per cent of the children with sickle cell disease live past the age of 10 in Nigeria, compared to over 96 per cent of sicklers who survive into adulthood in Britain and the U.S.

He also emphasises that the recurrent pains and complications of the disease can interfere with many aspects of a patient’s life, including education, employment and psychological development.

Going from the general to the specifics, Alege says sickle cell anaemia is a genetic disorder that crops up due to the presence of an abnormal form of haemoglobin called haemoglobin S (Hb S), instead of haemoglobin A (Hb A), in the red blood cells.

According to him, the red blood cells (Erythrocytes) may contain normal haemoglobin AA only; a mixture of A and S (Hb AS) or S only.

“Persons with AS haemoglobin have sickle cell traits and are referred to as sickle cell carriers, while those with haemoglobin SS only (Hb SS) suffers from sickle cell disease.

“Those with AA are normal without sickle cell traits.

“Presently, there is no cure for sickle cell disease but cost-effective treatment exists for the pain and other aspects of the disease,’’ he says.

Alege maintains that the most important components of the treatment include early interventions with analgesics, antibiotics, rest, good nutrition, folic acid supplementation and high fluid intake.

‘At times, invasive procedures such as blood transfusion and surgery may be needed,” he adds.

The pharmacist says there is a need for public education to determine the people’s genetic status, so as to discourage genetically incompatible persons from falling into love, let alone marry each other.

Alege urges churches and mosques to refrain from conducting the wedding of genetically incompatible couples.

Echoing a similar viewpoint, Mr Ayodele Awopeju, a pathologist working for ONL laboratories in Ojo, Lagos, insists that the knowledge of a person’s genotype is important when choosing life partners, as prevention is always better than cure.

He says that intending couples should know each other’s genotype at the early stage of their relationship before they are well-rooted in love and easily swayed by emotions.

“Emotions and time spent in a relationship can becloud some persons’ judgment or decision to break up if they are not compatible with regard to their genotypes.

“If they choose to get married, this may result in giving birth to children with sickle cell while subjecting themselves and the children to years of pain, torture and affliction,’’ he says.

Awopeju advises intending couples to always undergo genotype tests so as to avoid giving birth to children with the sickle cell anaemia.

“Such tests will help intending couples to know if they are medically fit to have children; it will also help them to know how to avoid health complications.

“Intending couples should always try to seek the services of laboratory scientists for genotype tests and proper counselling, so as to guard against sickle cell anaemia in their children,’’ he says.

According to him, the genotype is the genetic makeup of an individual, with reference to a trait or multiple traits.

Awopeju identifies the four kinds of genotype as AA, AS, SS and AC, adding, however, that the AC genotype is not as common and prevalent as the other three genotypes.

He insists that a person with the AS genotype should not marry another person with AS genotype because, in the second or third generation, their family is likely to produce offspring with the SS genotype.

The health expert, however, advises parents to always check the genotype of their babies during pregnancy or immediately after birth.

Awopeju says the knowledge of a baby’s genotype would facilitate efforts to know the child’s health status and what should be done to sustain and maintain his or her health.

He urges stakeholders, particularly medical and religious organisations, to encourage intending couples to go for genotype tests before getting married, so as to prevent their children from having unnecessary health challenges.

Analysts, therefore, underscore the need for persons who are not genetically compatible to stay away from marriage at all costs.

This is because, after marriage, the situation becomes dire, as the cost of conducting a genotype test on the foetus in a woman’s womb appears very prohibitive.

‘How many couples can afford N230, 000 for Chorionic Villus Sampling (CVS) to test the foetus to ascertain its genetic status?’’ asks Mr Ebenezer Adeleye, a Programme Coordinator Sickle Cell Foundation, Nigeria.

“The CVS is a type of test done early in pregnancy, from eight weeks thereabouts, to determine the genotype of an unborn child,’’ he says.

Adeleye observes that most Nigerian couples do not patronise this particular test because of its prohibitive cost.

All in all, the consensus of opinion is that raising a child with the sickle cell anaemia is one of the most harrowing situations any family can go through.

“It gets really tough and the loss of a child is not something any parent could stomach; hence the need for intending couples to know their genotype before deciding to tie the wedding knots,’’ says an observer.

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