On the 19th day of June 2025, the world celebrated Sickle cell awareness day.

In light of this celebration of awareness, read through to learn more about Sickle Cell disease.

What is Sickle Cell Disease?

Sickle Cell Disease (SCD) is a blood disorder that affects the red blood cells. It is a hereditary disease characterized by sickle shaped red blood cells instead of the usual biconcave shaped red blood cells in healthy individuals. 

These sickle cell shaped red blood cells do not allow for easy flow through the blood vessels as well as easy oxygen transport. This in turn blocks blood flow in small vessels and causes breakdown of red blood cells faster than normal cells, which leads to a constant shortage of red blood cells, also known as anemia. Sickle cell disease is a lifelong condition that begins at birth and can cause serious health problems throughout a person’s life.

Causes of Sickle Cell Disease

Sickle Cell Disease is caused by a genetic mutation in the gene  responsible for producing hemoglobin—the protein in red blood cells that carries oxygen by the replacement of glutamic acid with valine. The condition is inherited in an autosomal recessive pattern, meaning a child must receive a sickle cell gene from both parents to develop the disease.

There are different types of Sickle Cell Disease, depending on the specific genetic mutation:

HbSS (Sickle Cell Anemia) – the most severe form; inherited sickle cell genes from both parents.

HbSC Disease – one sickle gene and one gene for another abnormal hemoglobin; milder symptoms.

HbS Beta Thalassemia – a mix of sickle cell gene and beta thalassemia gene. If a person inherits only one sickle cell gene and one normal gene, they have sickle cell trait. These individuals usually do not experience symptoms, but they can pass the gene to their children.

Symptoms and complications of Sickle Cell Disease

Sickle Cell Disease can cause a wide range of symptoms and complications that differ in severity and frequency. Some of the common complications and symptoms include:

Chronic Pain Episodes (Crises): Pain episodes occur when sickled red blood cells block blood flow to different parts of the body. These can last for hours or even days and are a major symptom of the disease.

Anemia: Because sickled cells break apart easily, patients often have a shorter lifespan of red blood cells which leads to a more reduced volume of blood cells than normal. This leads to anemia which can be characterized by chronic fatigue, weakness, paleness (especially in the lips, palms, or nail beds), shortness of breath, dizziness or lightheadedness.

Swelling of Hands and Feet: Blockage of blood flow can cause swelling and discomfort in the extremities, particularly in infants.

Increased Risk of Infections: The spleen, which helps fight infection, is often damaged early in life due to sickle cells, making patients more prone to bacterial infections like: Pneumonia, Meningitis, Bone infections (osteomyelitis), Sepsis (blood infection)

This is why preventive antibiotics and vaccinations are important from infancy.

Delayed Growth and Puberty: Lack of oxygen and nutrients due to anemia can slow down physical development in children and adolescents.

Vision Problems: Sickle cells can block tiny blood vessels in the eyes, leading to potential vision loss.

Organ Damage: Due to the sickle shape of the cells, there is reduced blood flow to the  other organs which can cause long-term damage to the heart, lungs, kidneys, and liver.

Jaundice: Because sickled red blood cells break down quickly, bilirubin builds up in the body. This causes: Yellowing of the skin and eyes (jaundice), Dark-colored urine.

Stroke: Children and adults with SCD are at increased risk for stroke, due to blocked blood flow to the brain. Symptoms may include:

---Sudden weakness or numbness (often on one side of the body)

---Slurred speech

---Seizures

---Loss of consciousness

Regular transcranial Doppler screening helps detect stroke risk early in children. Other symptoms that may be seen include:

Gallstones, Leg Ulcers, and Bone Damage.

These conditions may be seen  due to long-term complications.

How Can It Be Helped?

While there is no universal cure for SCD, there are several strategies to manage the disease and improve the patient’s quality of life:

1. Medications: Hydroxyurea helps the body produce fetal hemoglobin, which reduces the frequency of sickle cell crises and the need for blood transfusions. Antibiotics such as penicillin are given to young children to prevent infections. Pain relievers are used to manage chronic and acute pain.

2. Blood Transfusions: Regular blood transfusions increase the number of normal red blood cells, helping reduce the risk of stroke and severe anemia.

3. Bone Marrow or Stem Cell Transplant: This is the only known potential cure but is usually reserved for severe cases, especially in children, and requires a closely matched donor.

4. Supportive Care: Drinking plenty of fluids to prevent dehydration. Eating a healthy diet rich in folic acid and other nutrients. Regular exercise (as tolerated) and adequate rest, avoiding extreme temperatures and stress

5. Routine Monitoring: Regular check-ups with a hematologist help detect complications early and ensure proper management.

Prevention

Since Sickle Cell Disease is inherited, it cannot be entirely prevented. However, several measures can reduce the risk and impact:

Genetic Counseling and Screening: Couples who are carriers of the sickle cell trait can benefit from genetic counseling to understand the likelihood of passing the disease to their children. Testing before or during pregnancy can help families make informed decisions.

Newborn Screening Programs: Early diagnosis through newborn screening allows for timely interventions, such as vaccination and antibiotics, to prevent life-threatening infections.

Public Awareness and Education: Educating communities about the importance of genetic testing, early treatment, and proper disease management can significantly reduce the disease burden.

Carrier Testing: People with a family history of sickle cell can get tested to determine if they are carriers, even if they show no symptoms.

Conclusion

Sickle Cell Disease is a serious genetic condition that affects millions of people worldwide, particularly in Africa and other regions with high carrier rates.  Although there is no simple cure, advances in medicine and early interventions have significantly improved outcomes for people living with the condition.

Raising awareness and promoting genetic counseling, with early detection, proper care, and community support, individuals with Sickle Cell Disease can lead longer, healthier, and more fulfilling lives. Prevention is better than cure. So before you settle down to start a family with someone, make sure you've both undergone tests to ensure you are not both carriers of the sickle cell gene.

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