World Sickle Cell Day 2024: Types, causes, symptoms and treatment for this genetic disorder

Sickle Cell Disease Day 2024: Symptoms of SCD typically begin around six months of age and can vary greatly in severity among individuals (Image: Canva)

World Sickle Cell Day 2024: Sickle cell disease (SCD) is a genetic disorder characterised by the presence of an abnormal form of haemoglobin known as HbS in the blood. This condition results from a mutation in the beta-globin gene of haemoglobin. Because SCD is inherited, the mutated gene (HbS) can be passed from parents to their children. If both parents carry at least one copy of the HbS gene, there is a higher likelihood that their child will inherit two HbS genes (HbSS) and develop SCD.

The disease can also manifest when one parent carries the HbS gene, and the other carries a different haemoglobin gene mutation, such as HbC or beta-thalassemia. Depending on the specific combination of inherited genes, SCD can present in various forms, including HbSS, HbSC, and HbSβ, each impacting the production of normal haemoglobin differently.

Symptoms of sickle cell disease

Symptoms of SCD typically begin around six months of age and can vary greatly in severity among individuals, says Dr Namrata Singh, Consultant Pathologist, Dept of Haematology and HLA, Metropolis Healthcare Limited.

Watch out for these common symptoms of sickle cell disease, and its complications:

Pain Episodes (Vaso-Occlusive Crises): These are frequent and severe pain episodes caused by sickled red blood cells blocking blood flow in small vessels.

Severe anaemia: This leads to symptoms such as fatigue, shortness of breath, and delayed growth in children.

Increased susceptibility to infections: Due to the compromised function of the spleen, an important part of the immune system, patients with SCD are more prone to infections.

Chronic anemia complications: These can include organ damage and delayed puberty.

Iron overload: Repeated blood transfusions can result in excess iron in the body, necessitating chelation therapy to remove it.

Diagnosis and treatment of sickle cell disease

Early diagnosis and treatment are crucial for managing SCD and improving the quality of life for patients, says Singh. Key diagnostic and treatment approaches include:

Newborn screening: Early detection through newborn screening programmes is vital. High-Performance Liquid Chromatography (HPLC) can detect HbS levels, and molecular analysis can confirm genetic combinations.

Comprehensive medical care: Regular check-ups, vaccinations, and adherence to treatment plans are essential.

Medications: Hydroxyurea is commonly used to reduce the frequency and severity of pain crises by stimulating the production of fetal haemoglobin, which has protective effects against sickling.

Blood transfusions: These are used to treat severe anemia and in specific situations, such as pre-surgery preparation.

Bone marrow transplants: Potentially curative but finding a well-matched donor can be challenging.

Gene therapy: Experimental approaches are being developed to correct the underlying genetic mutation and offer a permanent cure for SCD.

Preventive measures and awareness

Preventive measures and raising awareness are crucial in reducing the burden of SCD:

Education: Educating young people about SCD and the importance of genetic counselling.

Prenatal screening: Incorporating proper screening tests into prenatal check-ups.

Genetic counselling: Helping couples with a family history of SCD understand their carrier status and the risks of passing the condition to their children.