SICKLE CELL DISEASE

Sickle cell disease is a hereditary blood disorder characterized by the production of abnormal haemoglobin, called haemoglobin S (HbS). This abnormal haemoglobin causes red blood cells to become rigid and shaped like a sickle or crescent, leading to various complications. It is most common among people of African, Mediterranean, Middle Eastern, and Indian ancestry.

CAUSES OF SICKLE CELL DISEASE

Sickle cell disease is caused by a genetic mutation in the HBB gene, which provides instructions for making the beta-globin subunit of haemoglobin. This mutation results in the production of haemoglobin S. When a person inherits two copies of the sickle cell gene (one from each parent), they develop sickle cell disease. This condition is particularly prevalent in Sub-Saharan Africa, including Ghana, where it presents significant health challenges.

Genetics: Autosomal Recessive Inheritance: Sickle cell disease follows an autosomal recessive pattern, meaning that both copies of the HBB gene in each cell have mutations. Parents who each carry one sickle cell gene (carriers) have a 25% chance with each pregnancy of having a child with sickle cell disease.

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SYMPTOMS OF SICKLE CELL DISEASE

The symptoms of sickle cell disease can vary in severity and may include acute and chronic complications. The primary issues arise from the sickling of red blood cells, which leads to blockages in blood flow and a reduced lifespan of the red blood cells.

1.??? Chronic Fatigue: Due to the destruction of sickle cells, there is a constant shortage of red blood cells (haemolytic disease), leading to fatigue and weakness.

2.??? Pallor and Jaundice: The rapid breakdown of red blood cells can cause jaundice (yellowing of the skin and eyes).

3.??? Severe Pain: Episodes of acute pain occur when sickle-shaped cells block blood flow through tiny blood vessels to the chest, abdomen, and joints. Pain can vary in intensity and duration.

4.??? Swelling: Hands and feet may become swollen due to blocked blood flow.

5.??? Increased Susceptibility: The spleen, which helps fight infections, may be damaged or dysfunctional due to sickle cells, leading to an increased risk of infections.

6.??? Growth Delays: Children with sickle cell disease often grow more slowly and reach puberty later than their peers.

7.??? Chest Pain and Fever: Resembles pneumonia and is characterized by chest pain, fever, difficulty breathing, and cough. It is a medical emergency that requires immediate treatment.

8.??? Prolonged and Painful Erection: Sickle cells can block blood flow out of the penis, leading to prolonged and painful erections. If not treated promptly, this can lead to permanent damage and impotence.

9.??? Organ Complications: Chronic damage can occur in organs such as the spleen, liver, kidneys, and lungs due to reduced blood flow and oxygen supply.

DIAGNOSIS AND MONITORING

Sickle cell disease is usually diagnosed through blood tests that identify the presence of sickle haemoglobin (HbS). Newborn screening programs can detect the disease shortly after birth and SYNLAB's neoBona test can detect this during pregnancy. In Africa, according to research, sickle cell disease (SCD) is a major public health problem with over 200,000 babies born per year with this condition and approximately 15,000 (2%) of Ghanaian new-borns diagnosed with SCD annually.

Regular health check-ups and monitoring are crucial for managing symptoms and preventing complications.

Management and Treatment

While there is no universal cure for sickle cell disease, treatments focus on managing symptoms and preventing complications:

• Medications: Pain relievers, hydroxyurea (to reduce the frequency of pain crises), and antibiotics (to prevent infections).
• Blood Transfusions: To increase the number of normal red blood cells.
• Bone Marrow Transplant: Potential cure for some individuals, particularly children with severe symptoms.
• Lifestyle Adjustments: Staying hydrated, avoiding extreme temperatures, and managing stress.

Early diagnosis, comprehensive care, and patient education are essential for improving the quality of life for individuals with sickle cell disease.

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Summary

Sickle cell disease is a genetic blood disorder caused by the production of abnormal haemoglobin, leading to the formation of sickle-shaped red blood cells. Symptoms include chronic disease, pain crises, increased infection risk, and organ damage. Diagnosis is typically through blood tests, and while there is no universal cure, treatments such as medications, blood transfusions, and potentially bone marrow transplants can help manage the disease. Preventive measures, genetic counselling, and comprehensive care are essential for managing and improving the quality of life for individuals with sickle cell disease.

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