On this interview with SADE OGUNTOLA, a Principal Medical Officer on the College of Ilorin Well being Providers Clinic and the general finest graduate from the twentieth Genetic Counselling Coaching Course on Sickle Cell Problems by the Sickle Cell Basis Nigeria, Dr Nathaniel A. Akintunde, advocates for genotype screening and genetic counselling for all Nigerian adolescents to reverse the burden of the illness in Nigeria and improve high quality of life for individuals with the dysfunction in Nigeria. Excerpts:
WHAT is genetic counselling all about?
Genetic counselling refers back to the provision of correct, full and unbiased data in a caring relationship that provides steerage however permits affected people and households or these in danger to make their very own selections as regards genetic ailments. There are various genetic ailments, however the commonest that readily involves thoughts, particularly in Nigeria, is sickle cell dysfunction. There are different blood-related genetic ailments, like thalassemias and Hemophilia.
Nonetheless, it’s relevant to different situations like breast and ovarian cancers and typically some medical situations like infertility, stillbirth and a number of miscarriages.
So, genetic counselling isn’t restricted to sickle cell problems. It has a job in different ailments comparable to Down’s syndrome, haemophilia (a dysfunction wherein blood doesn’t clot usually) and cystic fibrosis. Extra so, between 5 and 10 % of breast, ovarian and another cancers have genetic origins.
In actual fact, research have proven it has a spot within the prevention and administration of most cancers. There may very well be mutations in numerous genes in individuals’s our bodies that later manifest as ailments, together with most cancers. As such, an understanding of the household tree and the existence of a few of these ailments within the household can assist a person to take proactive steps within the prevention and administration of those ailments in their very own physique.
Within the case of sickle cell dysfunction, how can genetic counselling assist each in prevention and guaranteeing wholesome residing for individuals with the situation?
Genetic counselling, as regards to sickle cell dysfunction, has many purposes. First, it may well assist individuals with the situation and {couples} susceptible to having an affected baby perceive how sickle cell dysfunction comes about, the truth that it’s an inherited dysfunction with contribution from each mother and father. The kid finally ends up inheriting both the hemoglobin S gene or one other variant such because the hemoglobin C gene, that are the most common ones in our surroundings. In fact, there are over 1,400 variants of the hemoglobin varieties. The same old hemoglobin in adults is Hemoglobin A. Hemoglobin S and C is because of a mutation within the chain that produces them. Nonetheless, some individuals with simply one of many uncommon Hemoglobin inherited from both mother or father, for instance, these with genotype AS, are known as sickle cell carriers or sickle cell trait. The opposite frequent hemoglobin service or trait is AC. That is the place genetic counselling is available in to assist a sickle cell service make an knowledgeable determination concerning the alternative of a partner who additionally has a genotype AS or AC. The probabilities of birthing an SS or SC baby is absolutely defined to them. You will need to observe that an skilled in genetic counselling must be consulted for this.
One other stage of genetic counselling for sickle cell problems helps intending {couples} who’re susceptible to giving beginning to a baby with sickle cell dysfunction (e.g AS/AS {couples}) with data on the completely different choices out there to them to keep away from having a SS baby. One among these is what we name pre-natal analysis (PND), the place the genotype of the unborn child could be detected at about 11 weeks of being pregnant.
By means of counselling, individuals already recognized with sickle cell illness (youngsters, adolescents and adults) and their mother and father and caregivers can acquire a full understanding of the necessity for adherence to preventive measures and coverings to take care of a greater high quality of life. As a result of they’re made to grasp how all these preventive steps and processes work. Compliance is excessive, which reduces the frequency of sickle cell crises and hospitalisations.
If that’s the case, does genetic counselling subsequently have a job to play in stemming the variety of individuals with sickle cell illness in Nigeria?
Actually, genetic counselling is essential to scale back the variety of individuals born with sickle cell illness in Nigeria. In Nigeria of as we speak, we nonetheless have individuals simply going into marriage and having infants with out realizing their genotype. We’ve got youngsters with unplanned pregnancies, {couples} in monogamous and polygamous marriages with none premarital genotype screening. Though consciousness is rising about sickle cell illness, in some locations, they’re nonetheless being stigmatised and known as derogatory names comparable to ‘Abiku’, ‘Emere’and ‘Ogbanje’. They’re perceived not to have the ability to stay as much as a sure variety of years earlier than they die due to ignorance and lack of entry to plain medical services in years previous. There’s lack of awareness that it’s a genetic/inherited illness, in order that they relatively attribute it to one thing supernatural or demonic.
Little question, with genetic counselling, we’re bringing information and knowledge, stressing that the situation isn’t supernatural; it’s simply the truth that the kid inherited hemoglobin S or C from the mother and father. With that information, individuals can now make higher, extra knowledgeable selections about whom to marry, thereby decreasing the incidence of sickle cell illness.
Additionally, carriers who nonetheless wish to get married to one another, by way of counseling, are made conscious of the implications of getting youngsters with the SS genotype. Fairly a quantity decide out of the meant marriage, however those who wish to go forward are provided choices like adoption of youngsters or prenatal analysis to display the genotype of the newborn whereas nonetheless within the womb. That is doable as early because the eleventh week of being pregnant. If the genotype of the unborn child comes out to be SS, the couple’s choice might be both to maintain or terminate the being pregnant. The termination of the being pregnant is fraught with many points starting from spiritual perceptions to psychological: However nonetheless, it’s a medical choice. The choice lies totally with the couple.
Sure, genetic counselling does rather a lot to scale back the incidence of sickle cell illness instances and to enhance the standard of life of individuals residing with sickle cell illness and trait, however quite a lot of components come into play in marital relationships, so a counsellor doesn’t take a call for the couple. Nonetheless, we provide all of the wanted data. Couple who’re sickle cell carriers should be absolutely conscious of the implications of going forward with procreation. There’s a 25 % or one in 4 probability that every being pregnant could be SS. Not that one out of 4 youngsters might be SS, however the probabilities happen for every being pregnant. This implies, a pair can have all the kids being SS and might also not have any. It’s merely a sport of probability.
Is the variety of new sickle cell illness instances decreasing in Nigeria?
Nicely, it could be troublesome to say categorically if sickle cell illness instances are decreasing in Nigeria. Completely different researchers reported assorted outcomes primarily based on geographical location. Nonetheless, what is for certain is that consciousness of sickle cell illness is getting stronger and there’s a main decline within the mortality charges. What’s established as of as we speak is that Nigeria nonetheless has the very best burden of sickle cell illness in the entire world. Presently, the prevalence of sickle cell illness in Nigeria is between two and three % and one in 4 Nigerians has the sickle cell trait. It means about three to 4 million Nigerians live with sickle cell dysfunction and over 40 million Nigerians are sickle cell carriers. That could be a lot, and that’s the reason we’re nonetheless working to create extra consciousness about sickle cell dysfunction so individuals can perceive the illness. As well as, in an effort to cut back the burden of sickle cell illness, I perceive that the Federal Authorities has launched a programme to display newborns for sickle cell with point-of-care check kits to find out their genotype at beginning. Its pilot section began in South-West Nigeria, and it’s going to unfold throughout completely different geopolitical zones.
In previous years, People with sickle cell dysfunction used to die younger. However this has modified now; they develop previous, get married and have youngsters of their very own due to improved medical care and consciousness. Nonetheless, rather a lot nonetheless must be finished in core rural areas with no entry to those services.
That people with sickle cell dysfunction can’t have infants or that they’re all the time sickly, slim and underweight are misconceptions. These are absolute lies. They will, and additionally it is not true that they should be slim and underweight; all of it boils all the way down to the extent of care the particular person is uncovered to. For instance, good diet, together with sufficient consumption of water, high-protein diets, loads of vegetables and fruit, taking their each day drugs and complying with all of the steps to forestall infections are useful to their well being.
In childhood, there’s a tendency for them to not catch up in progress and improvement with their contemporaries, however ultimately, with correct care and diet, they accomplish that. The true difficulty is the diploma of care and medical consciousness that they’ve and utilise to maintain themselves.
The place can people get entry to genetic counselling?
Now, the point of interest for data and assistance on genetic counselling is the Sickle Cell Basis Nigeria, which is reverse LUTH, Idi-Araba, Lagos. The muse has educated over 1,000 genetic counsellors which are in numerous components of Nigeria; they’ll simply give contact data of their trainees that’s closest to the person who wants the service. I’m additionally a educated genetic counsellor and work on the College of Ilorin Well being Centre in Kwara State.
On the Bethesda Sickle Cell Basis, what has been your expertise with sickle cell illness in North-Central Nigeria?
Bethesda Sickle Cell Basis is an rising NGO that was just lately launched to take coordinated motion on sickle cell illness. Nonetheless, I’ve been concerned in sickle cell illness advocacy prior to now. One of many issues that aided my ardour is the massive variety of individuals residing with sickle cell dysfunction I see often. Particularly, at my office, we see them just about each day; typically we now have two or three on admission on the identical time. I empathise with them when going by way of their painful crises and I really feel the necessity to tackle the truth that it’s an avoidable and preventable dysfunction.
This boils all the way down to a low consciousness of sickle cell illness, probably in rural areas, rising teenage pregnancies with out premarital genotype screening, in addition to many married {couples} not realizing their genotype, amongst many different components. As such, the Bethesda Sickle Cell Basis has been an advocate for genotype screening in secondary faculties and universities, in order that college students can know their genotype early, earlier than going into relationships and so they could make an knowledgeable determination. Genotype check should be a part of the obligatory medical screening for all contemporary college students in all tertiary establishments.
It is rather essential for well being staff to replace their information to have the ability to assist individuals with sickle cell dysfunction stay a greater life, unfold the appropriate data and demystify sickle cell illness. It was once I went for genetic counselling coaching in Lagos that I additionally received uncovered to the current advances within the medical administration of sickle cell sufferers in all elements.
Now, we’re speaking a few treatment for sickle cell illness by way of a bone marrow transplant or stem cell transplant. It’s now out there in Nigeria. There’s a new properly outfitted bone marrow transplant centre in LUTH, in partnership with Sickle Cell Basis Nigeria (SCFN), Lagos State authorities and Vanderbilt College Medical Centre, Nashville, USA. In fact, it’s costly and never everybody could also be certified for the process, however it’s a landmark improvement to have such a centre of excellence out there in Nigeria, and folks don’t have to go abroad to have it finished.
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