In this report, VINCENT KURAUN explores the groundbreaking strategies for managing sickle cell disease, with a particular focus on crisis prevention and treatment.

IN the quiet corners of homes, hospitals, and clinics across the globe, particularly in Nigeria, where an estimated 25 per cent of the population carries the sickle cell trait, the impact of sickle cell disease (SCD) is both profound and deeply felt. Yet amidst the challenges, a glimmer of hope is emerging for millions grappling with this condition.

For decades, approaches to managing SCD were predominantly reactive, focused mainly on alleviating symptoms and preventing crises. However, a surge of innovative treatments is now transforming the lived experience of individuals with sickle cell disease.

Once limited by a legacy of pain management and few treatment choices, recent advancements in medical research are reshaping the landscape for this genetic disorder, offering patients a more optimistic outlook.

Victory Adeyemi, a spirited 37-year-old woman and mother of two has lived with sickle cell disease all her life. Reflecting on her journey, she shared, ?managing sickle cell disease is certainly challenging, but the key takeaway is clear: through education, prevention, and the innovative treatments available today, we can reduce the severity of sickle cell crises.?

During her conversation with Sunday Tribune, she emphasised the importance of self-care, stating, ?for me, it?s all about balance.? With a cup of water in hand, she explained, ?Staying well hydrated and not missing meals are essential for avoiding a crisis. I make it a priority to listen to my body.?

Victory also highlighted the importance of a crucial research which has indicated that sickle cells can revert to their normal shape within the first 30 minutes if oxygen is administered promptly. ?The critical factor is delivering oxygen quickly at the onset of a crisis, ideally within 15 to 30 minutes,? she said.

?Oxygen can be delivered using oxygen cylinders or home concentrators,? she added, noting that the latter has become ?more accessible and affordable than hospitalisation for managing complications related to sickle cell disease.?

Under low oxygen conditions, red blood cells change from their normal round shape to a sickle shape, leading to blockages in blood vessels and causing severe pain known as a pain crisis. This obstruction hampers blood flow to vital organs, including the bones, kidneys, brain, and chest, potentially resulting in infections or organ damage.

Victory?s experience is not an isolated case as countless individuals in our communities are facing similar struggles.

Understanding Sickle Cell Disease (SDC)

Sickle cell disease stems from a mutation in the haemoglobin gene, resulting in misshapen red blood cells. Unlike their normal, flexible counterparts, sickle shaped cells are rigid and can obstruct blood flow, leading to immense pain and organ damage.

Crises can occur unexpectedly, triggered by dehydration, infections, and extreme temperatures, and can lead to both immediate complications and long term health issues.

In 2015 alone, there were between 1,001 to 1,659 new cases of sickle cell anemia per 100,000 births, reinforcing Nigeria?s status as a global epicentre for this condition.

Shedding more light on the complexities of sickle cell disease with Sunday Tribune, a renowned professor of haematology at the Faculty of Basic Medical Sciences, Obafemi Awolowo University, Ile-Ife, who also doubles as a consultant haematologist, Muheez Durosinmi, disclosed that the fundamental issue is that the haemoglobin in sickle cell disease is abnormal.

He noted that the majority of cases in Nigeria are severe and linked to various genotypes such as HbSS, HbSC, and HbS, each presenting unique health challenges.

?Regrettably, around 100,000 infants die annually from complications related to SCD, emphasising an urgent need for increased public awareness and intervention strategies,? he said.

Professor Durosinmi further explained that ?for families raising children with SCD, life often becomes a relentless cycle of health crises, emotional distress, and the fear of premature mortality. Sickle cell disease also poses a challenge due to its inheritance pattern.?

?Parents may unknowingly pass the sickle cell trait (HbAS) to their children, potentially leading to the inheritance of two sickle genes (HbSS) and the onset of the disease. This highlights the importance of genetic counselling as a crucial intervention,? he added.

Professor Durosinmi describes genetic counselling as an empowering conversation designed to provide at-risk individuals with the knowledge required to make informed reproductive choices, ultimately altering the trajectory of SCD in future generations.

?Managing SCD does not solely fall on the patients themselves. It extends to families and caregivers, who must navigate a complicated healthcare system. Although treatment options are increasingly available, they require substantial medical knowledge and support, particularly in under resourced regions,? he said.

Professor Durosinmi, while explaining the clinical complications of sickle cell disease (SCD), stated that ?the pathology of the less soluble sickle red blood cells manifests under reduced oxygen tension, leading to intravascular polymerisation and gelation. This process results in sickling, which can reverse upon exposure to oxygen.

?Cycles of sickling and unsickling cause permanent damage to the cell membrane, leading to the formation of polymers and rigid, less deformable, irreversibly sickled cells. These changes contribute to the characteristic chronic haemolysis, recurrent vaso-occlusion, body pain, and multiple end organ damage.?

He noted hypoxia, acidosis, increased temperature and dehydration as the major factors that promote polymerisation.

?Despite the daunting statistics, hope is on the horizon,? Professor Durosinmi stated, adding that ?significant advancements in treatment modalities, such as allogeneic bone marrow transplantation, are becoming more accessible in Nigeria. Additionally, gene therapies, while still largely experimental, offer promising avenues for potential cures.

?Key policy changes are also anticipated. Enhanced health service access, including the implementation of the National Health Insurance Scheme and the proposed National Sickle Cell Disease Prevention and Control Bill, could drastically improve the landscape for sickle cell patients in Nigeria, transforming despair into hope.?

Trends regarding the prevalence

Checks by Sunday Tribune showed that around 25 per cent of Nigerians carry the sickle cell trait, meaning they possess one normal gene and one sickle gene while those with the disease inherit two abnormal genes, comprising about 22-23 per cent of the population.

Alarmingly, recent trends show that the prevalence of sickle cell disease has not significantly changed, suggesting a persistent pattern of transmission due to factors like the continued intermarriage among carriers of the sickle cell trait and the ongoing prevalence of malaria in the region.

Also speaking on the statistics of sickle cell disease in Nigeria, the Vice-President of the Africa Society for Blood Transfusion for the ECOWAS Region, Professor Philip Olusola Olatunji, disclosed that the prevalence has not changed significantly in our society which gives the impression that the transmission of the disease has not changed in spite of what we have done.

?Meaning that people who have the traits, who have even one single gene, are still being married to one another. Because for you to have sickle cell disease, each of the parents must have at least one sickle gene. It means that those who are AS and AS are still getting married and propagating the gene,? he explained.

According to Olatunji, who also doubles as the president of the college of Nigerian pathologists, ?the second thing is that one of the things that are known to promote the propagation of the gene is the presence of malaria parasites. And we have still not been able to eradicate malaria parasites. So those two issues ? the continued marriage between people who inherit one abnormal gene and the persistence of the malaria parasite in our environment ? have continued to make sure that the genes continue to be propagated. That explains why the prevalence is not changing as much as we have expected it to change.?

Professor Olatunji emphasised that public awareness is crucial in improving support and management for affected families. According to him, by raising awareness, we can discourage marriages between individuals carrying these traits, thereby decreasing the likelihood of having children with sickle cell disease.

?Public awareness is very important in the sense that when people are aware, it will discourage the marriage of people who are carrying the traits of the disease. And once that is reduced, the possibility of having babies with the disease will be seriously reduced,? the consultant haematologist said.

He therefore advocated for widespread awareness campaigns that inform families about the importance of screening babies early in life. This, according to him, will enable healthcare providers to offer tailored guidance and support, improving the quality of life for affected children.

?Educational initiatives can encourage early screening for both individuals and newborns, allowing parents to take proactive steps in managing their child?s health. And once they are taking those precautions, their quality of life will improve. So those are two major areas.

?Our healthcare system also must be trained to effectively support these individuals across various conditions, tailored to the environments in which these children live.

?It is essential to connect them with healthcare providers early in life. These doctors will not only care for them but also promote their overall health. Increasing public awareness can enhance the management of affected children, guiding caregivers on the appropriate nutrition, vaccinations, regular medications, and especially how to identify early signs of a health crisis.?

He continued stating that, ?Recognising early warning signs is crucial as it enables timely access to care, which can significantly extend the lives of these children. If they receive proper education throughout their lives, they will learn to take care of themselves as adults, understanding how to manage their health, what to eat, what to avoid, and the necessary precautions to take. This knowledge is vital for maintaining their quality of life and ensuring longevity.?

Addressing complications

Regarding complications, Professor Olatunji stated as and as individuals with sickle cell disease age, the strain it places on various organs increases, adding that the organs most affected include the heart, spleen, kidneys, and liver.

?These organs are vital as they process substances and are frequently traversed by blood cells. Consequently, complications typically arise in these areas. Besides chronic pain, which is a significant complication of sickle cell disease characterised by periodic and episodic pain, the same factors that trigger this also lead to blood flow obstructions in various organs, depriving them of essential nutrients.

?One major complication is this periodic pain associated with the blockage of blood channels to critical organs. Additionally, the disease imposes considerable burdens on organs like the heart, kidneys, spleen, and liver. This ongoing stress can lead to organ dysfunction, causing them to fail sooner than they typically would in healthy individuals.

?As a result, the heart may experience increased pressure, leading to enlargement and weakness. Similarly, the kidneys may fail prematurely. It is also important to highlight lung health, as the lungs are responsible for oxygen exchange. When blood vessel blockages affect lung function, they can lead to respiratory issues, presenting as chest complications.

?These lung issues, referred to as acute chest syndrome, are significant contributors to early mortality in patients with sickle cell disease. Therefore, the heart, kidneys, spleen, and liver bear the heavy toll of this condition, often leading to early organ failure. As individuals age, the care for these organs becomes increasingly critical, necessitating regular monitoring.

?Furthermore, low blood levels also impact organ function. Although the body adapts to reduced red blood cell counts and lower oxygen transport, this adaptation comes with its own effects. Consequently, the heart and kidneys may fail early, liver issues can arise, and the spleen may shrink significantly due to atrophy over time.?

Regarding the oxygen therapy, Professor Olatunji said ?whether a person has sickle cell disease or not, the absence of available oxygen when it is needed can lead to significant complications and can result in death very quickly. I previously mentioned a complication known as asynchest syndrome.

?Asynchest syndrome is a respiratory complication that prevents red blood cells from accessing oxygen. When these cells are deprived of oxygen, the entire body can suffer from oxygen deficiency, which is a major cause of death in patients.

?It is crucial that when someone requires oxygen, they receive it. Anyone in need of oxygen, even if they are otherwise healthy, has only about four minutes without it before facing life threatening consequences. Therefore, if they exhibit any signs of respiratory distress, it is essential that they seek medical attention immediately. Failure to obtain oxygen when needed is one of the most straightforward paths to severe harm or death.?

Advancements in treatment

Professor Olatunji also emphasised that new treatments are emerging as vital components of medical advancements in the management of sickle cell disease.

?The most significant treatments are those that can reduce the rate of haemolysis, which is the frequent breakdown of red blood cells. Any medication that can alleviate this condition is crucial. Similarly, agents that can increase levels of haemoglobin F are important.

?Haemoglobin F is the type of haemoglobin produced in the womb and during the early stages of life. It is protective because it does not contribute to the sickling process, which poses the main challenge for patients. Therefore, drugs that can boost haemoglobin F are essential.

?Another critical aspect is addressing the genetic nature of sickle cell disease. Researchers are exploring ways to modify the genes involved. One noteworthy drug is hydroxyurea, which not only raises haemoglobin levels but also reduces pain and increases haemoglobin F in the body. These mechanisms contribute to an enhanced quality of life and, hopefully, prolonged survival.

?You may have heard of the CRISPR technique, which involves manipulating genes to enhance the production of haemoglobin F. When haemoglobin F levels are elevated, patients typically experience better health outcomes and longer lives. Current efforts focus on slowing the decrease of haemoglobin F while maintaining sufficient levels to protect patients and improve their well being.

?Ultimately, the goal is to replace the sickle gene with a normal gene that produces haemoglobin A instead of hemoglobin F. This process involves extracting a crucial cell from the patient, modifying its genes, substituting the sickle gene S with the normal gene A, and reintroducing it to the patient to ensure they produce haemoglobin A.

?Additionally, we are pursuing bone marrow transplantation. This involves destroying the patient?s existing bone marrow cells and sourcing stem cells from a sibling with normal haemoglobin A. The patient?s marrow then begins to produce cells resembling haemoglobin A, minimising the production of haemoglobin F and enabling a more typical life.

?Thus, approaches like hydroxyurea, bone marrow transplantation, and genetic modifications are pivotal in increasing the production of haemoglobin A. Even inducing the body to create haemoglobin S can be beneficial, as individuals with the AS genotype do not suffer from the full spectrum of the disease?s adverse effects.

?Multiple innovative interventions are taking place at the molecular level to enhance patient well-being and mitigate the harmful effects of sickle cell disease.

?However, it is crucial to establish an effective care system that ensures patients receive timely follow up and treatment as the geographical distance between patients and hospitals can significantly impact care, especially if someone living in a remote area experiences a crisis and cannot swiftly reach a medical facility. This factor can make the difference between life and death.?

A vision for the future

Looking ahead, Professor Olatunji envisions a future where early diagnosis and treatment become standard practice.

He explained that mandatory newborn screening for sickle cell disease will allow families to connect with appropriate healthcare services from childbirth.

He also canvassed the screening of pregnant mothers can to determine their haemoglobin types, adding that screenings in secondary schools can inform young individuals of their genetic status before making marital decisions.

?Ultimately, providing comprehensive education and counselling at every stage of life will empower families to make informed choices regarding their health and reproductive futures.

?However, the decision of whether two people choose to marry should be entirely their own. We should not impose our will or direct anyone in this regard.

?We can conduct tests and provide them with knowledge about the risks involved in marrying one another, but it is not our place to dictate whether they should marry or not. The responsibility for those decisions ultimately rests with them.

?Our duty is to ensure that they receive education at the appropriate age and are equipped with all necessary information to make well informed decisions.

?That is the purpose of counselling. Thus, I assert that education and counselling are critical at every stage, from conception to adulthood, to help individuals make informed choices, enabling them to understand the potential dangers of their actions. They should be able to exercise their free will, and should they choose to take risks, they will at least be aware that it is their own decision and be prepared for the consequences.?

For families navigating the challenges of sickle cell disease, hope and resilience are key. Professor Olatunji emphasised that even in the face of difficulty, connecting with appropriate healthcare facilities and exploring options like prenatal diagnosis or in vitro fertilisation can empower couples to make choices regarding their pregnancies.

As the narrative around sickle cell disease evolves, there is a growing sense of optimism that with continued innovation and awareness, lives can be improved and the impact of this genetic condition can be significantly reduced. Therefore, the future for sickle cell patients in Nigeria and beyond looks brighter than ever. (Sunday Tribune)

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