Sickle cell disease is the most common blood disorder. On the 19th day of June of every year, the world marks the World Sickle Cell Day. The day is dedicated to reflecting on the impact of a phenomenon that affects millions of families, especially in these parts of the world.
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The day also affords us the chance to raise awareness and even, flirt with the possibility of a sickle cell-free world in the near future. It is not impossible and this is why the United Nations earmarked a day every year to remind us all to do our bit in the quest for uhuru.
Sickle Cell Disease comprises a number of exclusively inherited disorders of red blood cells that have significant toll on morbidity, quality of life, and even mortality in Sub-Saharan Africa. Exclusively, means that it is not a contagious disease and cannot be acquired ‘suddenly’ like some other common ailments like hypertension, diabetes, or even kidney diseases.
It is absolutely hereditary and thus implies that the two parents had contributed a ‘sickle gene’ each to create a new victim of the disease. So, if it was that easy to create, breaking the chain should not be so difficult, should it? We simply stop the aggregation of sickle genes by prospective parents, right? Easier said than done.
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About two months ago, I lost a colleague who lived with Sickle Cell Disease. She was a pretty, intelligent and fun-loving mother of two boys who have now been robbed of maternal affection at such young ages. A few years back also, another classmate and colleague of mine died from complications of Sickle Cell Disease. I remember how another classmate of mine had once described my late friend as ‘dangerously intelligent’. They are just the two most recent personal experiences I have had with the disease. Professionally, there have been several more and my guess is that many other people have had similar experiences with Sickle Cell Disease.
The major problem in the disease is defective haemoglobin, a protein found in red blood cells, that is carries oxygen to all body parts. Occasionally, due to one reason or the other, these defective haemoglobin proteins form sickle shapes resulting in poor oxygen transportation in the body and thus the common symptoms of the disease usually called ‘crisis’. It is not uncommon to find pain in the bones, bacterial infections, anaemia and even stroke during such crisis.
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This sickling is usually precipitated by extremes of weather, stress, dehydration, physical exertion amongst other things and can place remarkable burden on caregivers emotionally, socially, and financially. Nigeria is touted to have the largest population of people living with Sickle Cell Disease in the world and you can understand this given that we are the most populous black nation on the Earth. Every year, 150,000 children are born with Sickle Cell Disease and research shows that only 5% survive past age 10 in this environment.
There are individuals who are carriers – they carry the faulty sickle gene as either AS or AC (these are genotype variants). Carriers who espouse other carriers will have a 25% chance of birthing a child with the disease and so these carriers are the prime target for major awareness campaigns. This 25% chance applies to every pregnancy meaning a couple could sequentially have SS, SS, SS, and SS i.e. four sickle cell sufferers in that order. It also implies that they could have AS, AS, AS, and AS i.e. four straight carriers. That order is totally determined by chance and Mother Nature.
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Interestingly, 25% of Nigerian adults are carriers and so you can then imagine how big the pool for the defective genes is. We are not helped by the poor health care system in the country as the average life expectancy of people living with the disease remains in the 20s as against 53 years in the United States in 2007!
Selective mating appears to be the cheapest and most practical way of eradicating the disease in view of the highfalutin options like bone marrow transplantation which used to cost between $350,000 and $800,000 about 6 years ago depending on the origin of the tissue to be transplanted.
However, selective mating raises moral and human rights issues as to the appropriateness of picking spouses for individuals. On the other hand, are the two individuals capable of making an informed decision before deciding to start a family?
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A carrier friend of mine ended his courtship after he found out they had incompatible genotypes. He put logic over feelings and I thought he was remarkably brave to have done so. Another friend of mine did otherwise and married her carrier partner last year. The key thing is to discuss the possible scenarios thoroughly and have a plan to address any eventualities.
Technology has advanced so much that there is a lot more information available today about the possible options available to discordant couples. There is a place for prenatal diagnosis also even though our religiosity in these parts throw up morality issues. In all, the final decision must lie with the couple and they have the right to make whatever call they deem proper in view of their circumstances at the time.
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The key thing is to get many more young people talking about these issues. Many churches now demand for a genotype compatibility reports to solemnise marriages but given the nature and diversity of our country, this may not capture as many at-risk people. At one time in Oyo State, the then Military Administrator attempted to proscribe such marriages in a bid to tackle the problem but this failed as it was regarded as an infringement on human rights of citizens.
It will help to get more people aware of their own genotypes as a first step. It should be made affordable, accessible and available, possibly mandatory. We must be able to accurately determine just how many of us are carriers and this can only be done by continuous sensitisation at different levels of social class and status.
The message is beyond the feelings of intense romance and love, there are issues that must be attended to critically. They border on the financial and emotional stability of the family unit long after the rush of a wedding has settled. They border on the quality of life of offspring. They border on life itself.
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