#YNaijaEssays: It’s been 100 years of breakthroughs in Sickle Cell care, but we still have a long way to go

Sickle Cell

Sometime in 1910, a young black dental student Walter Clement Noel from the island of Grenada studying in Chicago had gone to see Dr James B. Herrick, a cardiologist, complaining of pain episodes, and symptoms of anaemia. Herrick had his medical resident, Dr Irons look into it and Irons found an anomaly in Walter’s red cells: they were shaped like a sickle. Herrick was excited to have discovered a unique blood disorder and optimistic to find a lasting cure for it, sharing this new found knowledge to the wider medical public through an formal medical paper. As the years went by and more cases popped up, further discoveries were made:

1. Sickle cell disease (SCD) was restricted/limited to persons of African origin.
2. Lack of oxygen causes red blood cells to sickle.
3. Sickle cell disease was hereditary in nature.

The first point is connected to malaria, a disease that continues to best the black continent. Sickle cell disease is more prevalent in malaria-prone areas. Interestingly, the disease provides some sort of buffer against malaria because sickled cells make poor hosts for the malaria parasite. The body recognises that the cells are deformed and destroys as many cells as possible. If a parasite is living in the cell, it gets destroyed along with the cell. Secondly, the deformed cells leak nutrients like potassium which malaria parasite needs to exist.

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Sickle cell is an inherited blood disorder that affects the body’s red blood cells. In 1927, Hahn and Gillespie discovered the role oxygen plays in deforming cells. When oxygen levels dip, haemoglobin, the protein in red blood cells which carry oxygen around the body, loses its original disc-shape and turns crescent (half-moon) or sickle-shaped.  They lose flexibility and as a result, the defective red blood cells are unable to pass easily  through the blood vessel.  Generally, sickle cells are able to pass through most blood vessels but they become obstructed when they encounter very small capillaries, which are about one fourth the diameter of a human hair.

Symptoms of sickle disease include painful swelling of the hands and feet, fatigue or fussiness from anaemia, yellowish colour of the skin (jaundice) or the whites of the eyes (icterus). The effects of SCD vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease. They include chronic pain, anaemia, vision problems, strokes/silent strokes, pulmonary hypertension, avascular necrosis, priapism, gallstones, ulcers in legs, kidney problems, opoid tolerance, mental impairment, growth retardation, physical deformities, etc.

Sickle cells also have a short lifespan: 10-20 days instead of the usual 90-120 days. Consequently, the body is unable to keep up production of new blood cells to replace those lost. “This is a condition called anaemia. The sickle-shaped cells can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can’t reach nearby tissues. The lack of oxygen can cause attacks of sudden, severe pain, called pain crises.

While sickle cell is not contagious, it is hereditary. This means that parents can pass sickle cell disease to their children. Hahn and Gillespie found out that it is possible for relatives of sickle cell warriors to have de-oxygenated red blood without the disease. This condition became known as “sickle trait”. Basically, people with sickle traits are heterozygous. In other words, people with the sickle cell trait have one normal gene and one sickle cell gene.  This makes them carriers for the gene whereas people with the disease were homozygous – i.e., had a double dose of the gene (SS). Sickle cell trait carriers can never develop sickle cell, but they carry the cells their entire lives and can pass them on to their children.

If both parents have SCD, there is a 100% chance their child will be born with the sickle cell disease. If both parents are carriers of the sickle cell trait, there’s a 50% chance, the child will also carry the trait (AS), a 25% chance the child will inherit the sickle cell disease and a 25% chance that the child will not inherit either trait or disease. If one parent carries the sickle cell trait and the other parents doesn’t carry either trait or disease, there’s a 50% chance that the child will inherit the sickle cell trait and a 50% chance that their kid will not inherit either trait or disease. If one parent has SCD and the other parent only carries the trait, there is a 50% chance that the child will be born with the disease and a 50% chance that the child will only carry the trait. If one parent carries neither trait nor disease and one parent has the disease, there’s a 100% chance, the child will be born with the SC trait. If both parents have neither disease nor trait, there’s a 100% chance their child will not be born with the disease or trait.

In this game of chances, genetically, sickle cell can be compared to Russian roulette.

While the medical world officially “discovered” the disease 108 years ago under the microscope of Dr Irons, Africans had been grappling with the disease for much longer. It was simply referred to names specific to the regions and cultural explanations for the phenomenon.

Ever heard of Abiku? In Yoruba mythology, whenever children are born and keep dying, the children are marked either so that they stop dying or so they are identified when returning as newborns. Science has come to explain much of this myth as Sickle Cell disease and that often the children who ‘survive’ premature from a mother plagued by Abiku, are carriers of the disorder.  

Thanks to the strides made in medicine, sickle cell disease can be detected early through blood screening. “Doctors can also diagnose SCD before a baby is born. That test uses a sample of amniotic fluid (the liquid in the sac surrounding the baby) or tissue taken from the placenta (the organ that brings oxygen and nutrients to the baby).” There has also been a lot of work sensitizing the public on the causes of sickle cell, how it affects sufferers and what can be done to reduce the stigma. Even more important is the work filmmakers like Wana Udobang is doing in showing that behind the disease statistics are people, with complex, multidimensional lives who refuse to be limited by the disease. 

Sickle cell warriors often come down with excruciating pain episodes called crisis, which is a function of the inability of blood cells to travel through vessels causing clots due to the shape of the “stiff rod” shape of the blood cell. It can occur in any part of the body. Some of the types of crisis include:

  • Spleen sequestration. This is the sudden enlargement of the spleen due to an overload of red blood cells trapped in the spleen. It can cause an increase in haemoglobin and can be fatal if left unnoticed.
  • Vaso-occlusive crisis. This happens when sickle-shaped red blood cells obstruct blood flow through capillaries. It can result in severe pain, organ damage and necrosis.
  • Aplastic crisis occurs when the bone marrow stops producing red blood cells, which causes anaemia. Other types of sickle cell crisis include acute chest syndrome and dactylitis.

Nigeria, Congo and India make up more than half of the world’s sickle cell population. Compared to the 1,000 babies born with sickle cell disease each year in the US, Nigeria has 91,000 babies born with the disease each year. This number is expected to rise. Nigeria has the highest rate of people living with sickle cell disease in the world, where overall 25% or 1 in 4 people (compared to the U.S. 1 in 12 people) have the sickle cell trait. It is estimated that sickle cell disease warriors spend 230,000 dollars annually on medical bills, amounting to 9 million dollars in a lifetime.

The only cure for SCD is bone marrow or stem cell transplantation, but because these transplants are risky and can result in severe complications or death, they are usually only used in children with severe SCD. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister. This is why genetic testing is advised. There are treatments that can help relieve symptoms, lessen complications, and prolong life:

  • Antibiotics to try to prevent infections in younger children.
  • Pain relievers for acute or chronic pain.
  • US FDA Amino Acid Endari ((L-glutamine).
  • Hydroxyurea, a medicine that has been shown to reduce or prevent several SCD complications. It increases the amount of fetal haemoglobin in the blood. This medicine is not right for everyone; talk to your healthcare provider about whether you should take it. This medicine is not safe during pregnancy.
  • Childhood immunizations to prevent infections.
  • Blood transfusions for severe anaemia. If you have had some serious complications, such as a stroke, you may have transfusions to prevent more complications.

A few inquiries arise when caregivers attend to patients with Sickle Cell Disease (SCD). There is a significant pain as the patients suffer intense pain episodes. There are reasons for this problem yet the more delicate situation is the use of ethical guidelines for patients with sickle cell pain – particularly since choices are typically made by perceptions without the thought of ethical standards.

Especially upsetting for SCD patients is the stereotyped conviction conveyed by many clinicians saying that SCD patients experience large amounts of dependence on the narcotic drugs used to treat their pain. This attitude could most likely breach the trust between a clinician and the patient and will, in turn, determine how much opportunity the clinician will give to the patient to contribute to decision-making about his or her care; which is a serious ethical issue.

Without a doubt, this inadequate involvement in their care and the negative attitudes held by clinicians about SCD patients, and suspicions about the trustworthiness of SCD patients are signs of the same fundamental problem often experienced by SCD patients; a lack of respect and honesty.

This untoward attitude towards SCD patients are sometimes created out of the reduction of these individuals to some aspect of their biology. Most times, especially in this part of the world, Nigeria inclusive, these clinicians refer to these individuals as ‘sicklers’, which sticks with them and are internalised with symbolic meanings such that they begin to think their life on earth is but very short. But this even happens outside of clinics.

Neighbours, friends, sometimes family members go behind these unique individuals (SCD patients) to ‘gossip’ about them, sometimes, saying they ought to be quarantined because they carry some contagious deadly disease – A stigma, just like patients with HIV/AIDS

And, because ethics is a societal construct – no solid obligation to follow the rules – it only becomes a big deal when there seems to be a problem or when the other party who is assumed to be ‘very healthy’ is aware that the SCD patient is in need of relationships in the society.

SCD patients are prone to stereotypes based on their disease status, invariably providing no room for them to actively participate in building true partnerships/relationships in society. In some cases, they are labelled with the ‘difficult patient’ tag. But changing the culture of stereotypes does not typically require forcing ethical instances on clinicians or members of the society, but culture change that will go the farthest in improving the experiences of patients with SCD.

These problems, though, have led organisations and/or individuals to join the fight to end ‘sickly’ children in the world by pushing the narrative that SCD patients should be sure about the genotype of their partner before tying the knot.

But that’s not all.

Coping with SCD and its stresses can be a herculean task, resulting in lowered self-esteem and learned hopelessness. Coping with the disease is described by Lazarus and Folkman as a twofold process of “adaptive functioning and regulation of emotional state.”

Patients cope with the disease in a variety of ways, such as prayers, family support, drug use and abuse, and psychological counselling. Religiosity is another coping mechanism in wellness and in a variety of diseases.

Researchers have discovered that spiritual wellbeing decidedly influences physical energy and enhances wellbeing. A positive relationship between lower blood pressure and religious participation has been penned down. Likewise, spiritual prosperity was additionally found to relate with personal satisfaction in patients with chronic disease.

But, just as we acknowledge the positives, we will be regarded as hypocritical if we fail to understand that religious institutions also use the opportunity to determine the lifestyles of SCD patients and sometimes, go on to promulgate ideals of choices of life partners and sometimes, religious affiliations.

Churches and Mosques alike have become the ‘go to’ authorities for ensuring genetic compatibility and sexual health for couples, a number or tests are required by religious organisations before marriages are blessed but these issues indeed transcend the powers of a religious institution and could be termed an infringement of an individual’s right of choice.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins, with its results confirming or ruling out a suspected genetic condition to help determine a person’s chance of developing or passing on a genetic disorder.

To situate it better, evidence abounds of parents in the US, China and Japan who are already using genetic testing as a way to plan their families, scanning for hereditary mutations and culling defective embryos in-utero.

In African societies, however, the case of genetic testing is a tough nut to crack as abortions, even to prevent the birth to sickle children, is prevented by law in most African countries and condemned by religious and cultural organisations.

Other contemporary solutions include the concept of designer babies, where in lieu of natural conception and genetic testing, surrogacy or genetic modification is used to create the embryos that eventually go on to become the babies of these couples.

Again, while this option feels narcissistic, especially as it relates to trying to build your perfect baby, rather than rely on faith or even fate to handle such, the ethics of these practices in entirety have kept them from being rounded.

In all of these, it is pertinent to draw a balance in the entire debate, and this could come from gaining the understanding that science; the pivot on which these solutions are revealed is not inseparable from “divine plan” as all of these discoveries are borne from the need to see that the very life God cherishes exists longer, than die of avoidable circumstances

Abstinence remains important but at the point of preparation for conception, genetic prediction is a necessary option for sickle cell prone relationships.

The main issue about SCD is that we don’t understand it. Researchers say that the origin of the mutation that led to the sickle-cell gene emanated from at least four independent mutational events, three in Africa and a fourth in either Saudi Arabia or central India. These independent events were said to have occurred between 3,000 and 6,000 generations ago, approximately 70-150,000 years.

The fact that majority of sickle patients are black Africans has been a huge hindrance in research. And this has drawn up conversations about the effect of racism and capitalism on SCD. Sickle cell recipients are mostly children because the effects of the genetic order doesn’t allow live to adulthood, thereby making the survival rate, especially in Africa, is slim. Pharmaceutical companies that are meant to carry out research on the disease have over the decades withdrawn their funds as they believe it’s not a viable investment because SCD is prevalent in black African children and Africans are not economically empowered to afford the cost of high drugs.

Recent studies show that genotypes have gone beyond the popular AA, AS and SS with the discovering of the C strain. And some carriers of the SCD also possess the C strain, meaning there are SC and CC patients, who are also SCD patients.

A major problem with the SCD is that people believe that carriers marry and become intimate purely for procreational purposes. But this shouldn’t be the case, people, carriers especially, shouldn’t be burdened to procreate as there are other means of having babies that are safer without having to transfer the sickle traits or genes into an offspring. Carriers should not be forced but should be allowed to make their choices on if they want to procreate or not. The decision should be left solely to them.

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Gene therapy is one way scientists have tried to handle SCD. This is because the sickle cell anaemia is caused by one defective gene, thereby, making it a good candidate for gene therapy, and if the sickle cell gene can be replaced by a normal gene in the bone marrow, patients will be able to produce normal haemoglobin. Gene therapy involves replacing the defective gene with a normal gene normally by injecting patients with a virus that has been genetically altered to carry normal human DNA.

However, research in this area suffered a major setback in 1999 when Jesse Gelsinger the first person to be publically identified to have undergone clinical trial involving gene therapy died during the trial.

There’s also the question on why people have refused to embrace and consider other possibilities such as genetic engineering, antenatal genetic testing and medical abortions. These will help parents with the sickle cell trait in making informed decisions on if they want to raise children with SCD.  There is still so much that needs to be done to create a world where sickle cell sufferers are able to integrate into society with minimal friction, but until that time comes, we must keep up the fight to prevent them from being defined solely by their disorder. 

 

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