Sickle cell disease (SCD) is a serious genetic blood disorder. It happens when a person inherits two abnormal hemoglobin genes (called hemoglobin S), one from each parent. If a person inherits just one sickle gene and one normal gene, they are called a carrier. Carriers usually don’t show symptoms, but they can still pass the gene to their children.
To some people, especially in less informed communities, the term “sickle cell” might sound strange. But this illness is real and affects people in many countries, including Nigeria. Sickle cell disease brings not just physical pain, but also emotional struggles, misunderstanding, and lack of proper healthcare.
We must raise awareness about this condition. With the right knowledge, we can support people living with it, educate others, and help build a healthier and more compassionate society.
What is Sickle Cell Disease
Sickle cell disease (SCD) is a common inherited blood disorder that affects the red blood cells. In people with SCD, the red blood cells contain an abnormal form of a protein called hemoglobin. Hemoglobin is very important because it helps carry oxygen through the blood to every part of the body. When this protein is not normal, it causes the red blood cells to become hard, sticky, and shaped like a sickle (C-shape), making it harder for blood to flow properly.
What Causes Sickle Cell Disease?
Sickle cell disease is indeed caused by a genetic mutation in the HBB gene, which provides instructions for making a part of hemoglobin — the protein in red blood cells that carries oxygen.
- It is an autosomal recessive disorder, meaning a child must inherit two sickle cell genes (S) — one from each parent — to have sickle cell disease (SS).
- If both parents are carriers (AS genotype), each pregnancy has:
- 25% chance of SS (sickle cell disease)
- 50% chance of AS (carrier with no or mild symptoms)
- 25% chance of AA (completely unaffected)
This makes genetic testing and counseling very important, especially before marriage or having children.
Common Symptoms of Sickle Cell Disease
Sickle cell disease affects the red blood cells and can lead to many health problems. The symptoms may start from around 6 months of age and can vary from person to person. Some people may have mild symptoms, while others may face serious complications.
Below are the most common symptoms of sickle cell disease:
1. Pain Crises
- This is one of the most common symptoms.
- It is sudden and severe pain that can happen anywhere in the body—like the chest, back, arms, legs, or joints.
- It happens when sickle-shaped blood cells block the flow of blood.
2. Anemia (Low Red Blood Cells)
- People with sickle cell often have a shortage of red blood cells.
- This can cause:
- Tiredness or weakness
- Pale skin or lips
- Shortness of breath
- Fast heartbeat
3. Swelling in Hands and Feet
- Babies and children may have swollen hands and feet.
- This happens when sickled cells block blood flow in the small blood vessels.
4. Frequent Infections
- Sickle cell can weaken the immune system.
- This makes it easier for the person to get infections like pneumonia or flu.
5. Delayed Growth and Puberty
- Children with sickle cell may grow slower than others.
- They may also start puberty later than normal.
6. Vision Problems
- Tiny blood vessels in the eyes can get blocked.
- This may cause eye pain, blurred vision, or even vision loss.
7. Yellow Eyes and Skin (Jaundice)
- This happens when too many red blood cells are broken down.
- It makes the eyes or skin look yellow.
8. Breathing Difficulty and Chest Pain
- This can be a sign of acute chest syndrome, a serious sickle cell complication.
- It may feel like pneumonia and needs quick treatment.
9. Frequent Tiredness
- Low blood count and poor oxygen flow can make a person feel tired all the time.
Symptoms can be different for each person. Some may have regular sickle cell crises, while others may go for long periods without pain. But regular check-ups and early treatment can help manage symptoms and improve quality of life.
Types of Sickle Cell Disease (SCD)
Sickle cell disease (SCD) is not just one condition. There are different types of SCD, and the type a person has depends on the genes they inherit from their parents. These genes carry the code for abnormal hemoglobin, the protein in red blood cells that carries oxygen throughout the body.
Below are the most common types of sickle cell disease:
HbSS (Sickle Cell Anemia)
This is the most common and most severe type of SCD. A person with HbSS inherits two sickle cell genes (S) — one from each parent. The red blood cells become hard, sticky, and shaped like a sickle (C-shape), causing serious health problems such as pain crises, anemia, and organ damage.
HbSC
A person with HbSC inherits one sickle cell gene (S) from one parent and one hemoglobin C gene from the other. Hemoglobin C is another abnormal form of hemoglobin. This type of sickle cell disease is usually less severe than HbSS but can still cause serious health issues like pain, fatigue, and vision problems.
HbS Beta Thalassemia
In this type, a person inherits one sickle cell gene (S) from one parent and a gene for beta thalassemia from the other. Beta thalassemia is another blood disorder that affects hemoglobin production.
There are two forms:
- HbS beta-zero (β⁰): This is a more severe type, similar to HbSS.
- HbS beta-plus (β⁺): This is usually a milder form, with fewer symptoms.
Rare Types of Sickle Cell Disease
There are also less common types of SCD caused by combining the sickle cell gene with other abnormal hemoglobin types:
- HbSD
- HbSE
- HbSO
These rare types happen when a person inherits one sickle cell gene (S) and one gene for another abnormal hemoglobin — D, E, or O. The severity of these types can vary from mild to severe, depending on the specific gene combination.
The Dangers of Sickle Cell on Mental Health and Well-being
Living with sickle cell disease can deeply affect a person’s mental health and overall well-being. Some of the emotional challenges include:
- Constant physical pain from sickle cell crises
- Feelings of sadness or depression
- Anxiety about the future
- Loneliness and social isolation
- Low self-esteem, especially among children and teenagers
- Emotional exhaustion from regular hospital visits and medications
Without proper mental health support, these emotional effects can grow worse over time, reducing the person’s quality of life.
Impact on the Family
Sickle cell doesn’t just affect the person with the disease—it affects the whole family. Some challenges families face include:
- Financial stress due to frequent hospital bills and medications
- Emotional strain from watching a loved one in pain
- Guilt or blame among parents who passed on the gene
- Limited family outings or plans due to the child’s health
- Fear and worry about the future and long-term care
This is why emotional and mental support for both the victim and the family is very important.
Why Early Awareness Matters
Raising awareness about sickle cell helps in many ways:
- Early Diagnosis and Medical Help: When diagnosed early, doctors can give treatment that improves the patient’s life.
- Less Discrimination: Many people still misunderstand this disease. Awareness helps reduce stigma and encourages compassion.
- Genetic Counseling Before Marriage: Knowing your sickle cell status helps couples make informed choices to prevent passing on the disease.
- Improved Health Access: More awareness means better facilities and care options in hospitals and communities.
- Newborn Screening: Symptoms often begin around 6 months old. Early signs include:
- Pale skin (anemia)
- Tiredness or weakness
- Swollen hands and feet
- Slow growth
- Frequent pain (crises)
- Regular Checkups: People with sickle cell need constant monitoring to avoid or manage complications like infections, organ damage, or strokes.
Treatment Options for Sickle Cell Disease
Although there is no widespread cure yet, many treatments help manage the disease:
- Medications:
- Hydroxyurea
- Pain relievers
- Folic acid
- L-glutamine (to reduce pain crises)
- Blood Transfusions: These help treat severe anemia and improve blood flow.
- Stem Cell Transplant: This is the only known cure and is done for young people with a suitable donor. It is not widely available yet.
- Better Access to Healthcare: Many patients still don’t get proper treatment. More support is needed from health systems and governments.
- Mental and Social Support (Holistic Care): Treatment should not only focus on the body but also the mind and emotions. Talking to a counselor, joining a support group, and having a strong family network can help a lot.
Importance Of Early Awareness
- Early Diagnosis and Intervention: early diagnosis allows medical intervention that can significantly improve the quality of life for individuals with the disease.
- Reduce stigma and discrimination: The awareness of this disease helps to dispel misconception and reduce stigma and discrimination against individuals affected by the disease.
- Prevention and Genetic Counseling: Awareness can help individuals about the genetic nature of sickle cell encouraging the youth before getting married. understanding the risk of passing the disease for the generation to come and also inform them on the choice they make
- Improving Healthcare Access: The awareness can initiate and improve healthcare infrastructure and accessibility for those with sickle cell disease and also public awareness in all our communities.
- Newborn Screening: The symptoms of sickle cell anemia usually appear around 6 months of age. It varies and may change from person to person and may also change overtime. and some of the early awareness is anemia, fatigue or tiredness , also crisis in different parts of the body like swollen feet and hands delayed in growth of the baby.
- Regular Monitoring and Follow-up: People with this disease needs adequate monitoring and identify and address complications early which include routine checkup and development in children and monitoring of anemia and organ dysfunction.
Prevention of Sickle Cell Disease
- Autosomal Recessive Inheritance: It means that both parents must carry a mutated gene for the child to be affected. If both parents are carriers there is 25% percent that for every pregnancy that the child will have sickle cell disease and 50% chances of being a carrier and 25% of not inheriting from the parent gene at all.
- Pre-Conception Counseling: it allows individuals to carry out a test for sickle cell trait before getting pregnancy this will enable couples to make decisions about family planning and explore other options like ivf or adoption.
- Carrier screening during pregnancy: carrier and screening can be carried out during pregnancy, this will enable the couples to know the risk of having a sickle cell child and also can guide them for prenatal testing and intervention.
- Genetic Counseling and Carrier Screening: Is the fundamental component of preventing sickle cell . In particular , families that have a history of sickle cell can also benefit from genetic counseling about inheritance patterns of the disease and assess their own risk of being carriers.
Conclusion
Sickle cell disease is more than just a blood disorder—it affects the body, mind, and the entire family. Through early awareness, proper care, and support, people with sickle cell can live full and meaningful lives. Communities must come together to educate, prevent, treat, and support those affected.
Let’s keep spreading awareness, showing love, and building a world where no one with sickle cell feels left behind.
