“Being diagnosed with sickle cell is not a death sentence. It is a challenge, but one that can be overcome with the right support and care. We are strong, resilient people who will not let this disease define us.”
— Fatima, a sickle cell survivor via ResearchGate
Sickle cell disease is a group of inherited health conditions that affect the red blood cells. It is caused by a mutation in the HBB gene that codes for the beta-globin protein, which is responsible for producing haemoglobin in red blood cells. This mutation leads to the production of abnormal haemoglobin, which causes the red blood cells to become sickle-shaped and rigid, leading to a range of health problems.
It is a disease we have become familiar with over time, but its danger is more imminent than ever.
As a country, Nigeria is facing a staggering public health crisis when it comes to sickle cell disease due to population. It bears the highest burden of this debilitating genetic disorder, with an estimated 150,000 babies born with sickle cell disease each year. That’s a startling statistic—it means that nearly one in every three children born with sickle cell disease globally is Nigerian.
The origins of the sickle cell disease
Sickle cell disease has a long history in Nigeria, dating back to the early 20th century. The first modern report of sickle cell disease was made in 1910 by American physician James B. Herrick, who described the condition in a patient from Grenada.
However, it is believed that the condition has been present in Africa for thousands of years, with evidence of sickle cell disease found in ancient Egyptian mummies.
In Nigeria, sickle cell disease was first described in the early 1950s, with the first reported case in 1954. Since then, the condition has become a major public health concern in the country, with the carrier frequency of the sickle cell trait in Nigeria between 10 and 40%, making it one of the highest in the world. Genetic studies also suggest the sickle cell mutation in Nigeria is primarily of the Benin haplotype. However, other haplotypes like Senegal, the Central African Republic or Bantu may also be present.
Factors contributing to its high prevalence
The prevalence of sickle cell disease in West Africa is due to a combination of genetic and environmental factors. Here are some of the key factors that have contributed to its high prevalence in the region:
1. Genetic factors
The sickle cell gene is more common in West Africa due to the region’s history of malaria. Carrying one copy of the sickle cell gene (sickle cell trait) provides some protection against malaria, as the abnormal haemoglobin helps to prevent the parasite from multiplying in the red blood cells. This has led to a selective advantage for individuals with the sickle cell trait, as they are more likely to survive and reproduce.
2. Malaria
Malaria is a major public health problem in West Africa, and the sickle cell gene has evolved as a response to the parasite. The abnormal hemoglobin produced by the sickle cell gene helps to prevent the parasite from multiplying in the red blood cells, which reduces the risk of malaria.
3. Evolutionary history
The sickle cell gene is thought to have originated in Africa, where it has been present for thousands of years. The gene has been passed down through generations, and its prevalence has been influenced by factors such as migration, genetic drift, and natural selection.
4. Population dynamics
The population dynamics of West Africa have also played a role in the prevalence of sickle cell disease. The region has a high birth rate, which means that there are more individuals who are carriers of the sickle cell gene. This has led to a higher prevalence of the disease in the region.
5. Lack of access to healthcare
In many parts of West Africa, access to healthcare is limited, which means that individuals with sickle cell disease may not receive the treatment they need to manage their condition. This can lead to a higher mortality rate and a higher prevalence of the disease.
Symptoms of sickle cell disease
The symptoms of sickle cell disease (SCD) are diverse and can vary in severity and frequency. Here are some common symptoms associated with SCD:
Painful episodes
Sickle cell crises, also known as vaso-occlusive crises (VOC), are the most common and distressing symptoms of SCD. These episodes occur when sickled cells block blood vessels, leading to severe pain that can last for several days or weeks.
Infections
People with SCD are more vulnerable to infections, particularly when they are young. Infections can range from mild, such as colds, to life-threatening, such as meningitis.
Anaemia
Nearly all people with SCD have anaemia, which is characterized by a low haemoglobin level in the blood. This can lead to symptoms like fatigue, shortness of breath, and dizziness.
Jaundice
Jaundice, or yellowing of the skin, eyes, and mouth, is a common sign and symptom of SCD. This is caused by the breakdown of red blood cells and the buildup of bilirubin in the blood.
Priapism
Priapism is a painful and potentially long-lasting erection of the penis caused by sickled cells blocking blood vessels.
Splenic sequestration
This is a life-threatening complication where sickled cells pool in the spleen, causing a sudden drop in haemoglobin levels and potentially leading to organ failure.
Stroke
SCD increases the risk of stroke, which can occur when sickled cells block blood vessels in the brain, leading to brain damage and potentially life-threatening complications.
Acute chest syndrome
This is a life-threatening medical emergency characterized by lung injury, difficulty breathing, and low oxygen levels in the body.
Gallstones
SCD can increase the risk of gallstones, which can cause abdominal pain and jaundice.
Others include bone and joint pain, eye problems, delayed growth and puberty, high blood problems and kidney and urinary tract infections.
These symptoms can vary in severity and frequency, and some people may experience only a few of them. Early diagnosis and treatment are crucial to managing SCD and preventing complications.
But for women, the disease is so much worse…
Women with SCD face unique challenges and complications during pregnancy, childbirth, and beyond. Here is a detailed report on its unique impact:
Pregnancy and Maternal Health
Pregnant women with SCD face a higher risk of complications compared to the general population. The abnormal sickle-shaped red blood cells can obstruct blood vessels, leading to vaso-occlusive crises (blockage of oxygen blood flow to tissues due to sickled cells), which can occur during pregnancy. These crises can manifest as severe pain, organ damage, and anaemia.
Delayed Puberty and Pain Crises
Girls with SCD may experience delayed puberty, and women may experience more pain crises during their period. The frequency of pain crises is also higher during reproductive age, which may be attributed to hormone changes.
Complications During Pregnancy
Women with SCD are at a higher risk of complications during pregnancy, including:
1. Pain crises: Severe pain episodes can occur during pregnancy, which can be managed with pain medication and other treatments.
2. Anemia: Women with SCD are at a higher risk of anaemia during pregnancy, which can lead to fatigue, shortness of breath, and other complications.
3. Pre-eclampsia: High blood pressure during pregnancy is a common complication in women with SCD, which can lead to preeclampsia and other complications.
4. Low birth weight: Babies born to mothers with SCD are at a higher risk of low birth weight, which can increase the risk of complications and mortality.
5. Miscarriage and stillbirth: Women with SCD are at a higher risk of miscarriage and stillbirth due to the increased risk of complications during pregnancy.
Let’s take, for instance, the story of Mrs Fagbomi, who wishes not to have her picture taken due to anonymous reasons. She had a history of sickle cell disease and was aware of the risks of pregnancy, but still decided to have a child “according to God’s will.” Unfortunately, she experienced a stillbirth due to a vaso-occlusive crisis; she was 30 minutes into labour. Since then, Fagbomi has not attempted to have another child. She has withdrawn from having children by means of adoption.
Sexual Health
Women with SCD may experience pain during sex (dyspareunia), which can be caused by pain drugs that affect hormone levels. This can affect women’s body image, personal relationships, physical exercise, and sexual activity.
The psychosocial impact
“Two months ago, I decided to drop out of school — partly because I was always too ill to attend most classes, but also because I was consistently bullied. If you’re wise, never mention that you’re a sickle cell patient outside. Otherwise it becomes fodder for bullies.”
This is the story of Esther, a former 200-level student at the University of Benin (UNIBEN) who could no longer keep up with the demands of academic work due to long term symptoms of sickle cell disease. It is only one of many psychosocial impacts that survivors constantly face.
Some others are:
- Stigma and Social Isolation: People with sickle cell disease in Nigeria often face stigma and social isolation due to the condition. This can lead to feelings of shame, guilt, and low self-esteem.
- Pain and Suffering: Sickle cell disease is characterized by recurring episodes of pain, which can be debilitating and affect daily life. This can lead to feelings of frustration, anger, and hopelessness.
- Emotional Distress: People with sickle cell disease in Nigeria often experience emotional distress, including depression, anxiety, and feelings of sadness and despair.
- Impact on Family and Relationships: Sickle cell disease can have a significant impact on family and relationships. Caregivers and family members may experience emotional distress, guilt, and feelings of helplessness.
- Limited Access to Healthcare: People with sickle cell disease in Nigeria often have limited access to healthcare, which can exacerbate the condition and lead to complications.
- Economic Burden: Sickle cell disease can have a significant economic burden on individuals and families, particularly in Nigeria, where healthcare services are often limited and expensive. For instance, the cost of hydroxyurea (a common medication for managing sickle cell disease) is about N50,000–N100,000 per month.
- Impact on Education and Employment: Just like Esther, sickle cell disease can affect education and employment opportunities, particularly for individuals who experience frequent episodes of pain and fatigue.
Treatment
When it comes to the treatment of this disease, there is a huge problem in Nigeria: high costs and limited access to the medical techniques involved.
In the West, the following medical techniques have become quite popular in the cure for sickle cell disease:
- Bone marrow transplant: therapy involving taking cells that are normally found in the bone marrow (stem cells), filtering those cells, and giving them back either to the donor (patient) or to another person.
- Gene therapy: Gene therapy is another potential cure for sickle cell disease. It involves the replacement of a defective gene with a healthy gene, allowing the body to produce normal red blood cells.
- Exchange blood transfusion: Exchange blood transfusion is a treatment option for sickle cell disease, but it is not commonly used in Nigeria due to the limited availability of blood banks and the high cost of the procedure.
- Prenatal diagnosis: Prenatal diagnosis is available in Nigeria, but it is not widely available due to the limited access to genetic counseling and the high cost of the service.
However, some treatments to manage the disease are available in Nigeria such as:
Hydroxyurea (HU)
HU is a medication taken orally once a day to help the body increase the production of haemoglobin, which reduces sickling and other complications of sickle cell disease.
Folic acid
Folic acid is commonly used in combination with malaria prophylaxis to manage sickle cell disease in Nigeria.
Blood transfusions
Blood transfusions are used to treat complications of sickle cell disease, such as anaemia and stroke.
Clinical services
The Sickle Cell Foundation Nigeria provides clinical services, including the supervision of sickle cell clinics and the provision of free drugs and equipment in some states.
Education and awareness
Despite its prevalence, there is a lack of awareness and understanding about sickle cell disease, which can lead to delayed diagnosis, inadequate treatment, and poor health outcomes.
Education and awareness are crucial in addressing the challenges associated with sickle cell disease, including the need for early diagnosis, proper treatment, and management of complications.
However, there are non-governmental organisations (NGOs) in Nigeria who are “fighting the good fight” to ensure the support of sickle cell disease patients. These NGOs include:
Based on the sources provided, here are the NGOs dedicated to sickle cell patients in Nigeria:
Sickle Cell Foundation Nigeria
They provide genetic counseling, clinical services, and research opportunities to improve the management and treatment of sickle cell disease.
Sickle Cell Hope Alive Foundation (SCHAF)
They work to reduce the burden of sickle cell disease in Nigeria through awareness, care, and research, with a focus on prevention, education, and community-based programs.
Sickle Cell Support Society of Nigeria (SCSSN)
The group advocates for the control of sickle cell disease, builds collaborations for scientific research, and provides support to patients and families affected by the condition.
As we mark Sickle Cell Day, let us recommit to raising awareness and promoting education about this devastating disease. Together, we can create a world where every individual, regardless of their genetic makeup, has the opportunity to thrive and reach their full potential.
