Sickle cell disease (SCD) - Dr SK Gupta, Clinical Hematologist, BMT Specialist

Dr. SK Gupta, HOD - Clinical Hematologist, Hemato Oncology, BMT Specialist, Cellular Therapy, explains the complexities of sickle cell disease, its diagnosis, treatment, and recent advancements.
- What is sickle cell disease?
Sickle cell disease is a hemoglobin disorder caused by a single gene mutation. It leads to the production of defective hemoglobin, resulting in red blood cells changing from their normal flexible, discoid shape to a rigid, sickle shape. This change causes the red blood cells to move less freely in the bloodstream, leading to early rupture and low hemoglobin levels (anemia). More importantly, it causes blockages in blood vessels, leading to tissue and organ damage due to decreased oxygen supply.
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- What are the complications of untreated sickle cell disease?
Untreated sickle cell disease can lead to severe complications, including organ damage such as strokes, hepatopathy (liver damage), nephropathy (kidney damage) requiring dialysis, and avascular necrosis (bone damage due to decreased blood supply). These complications result in severe pain, poor quality of life, and increased need for blood transfusions.
- What treatments are available for sickle cell disease?
There are two main categories of treatment for sickle cell disease: improving quality of life and curing the disease. To improve quality of life, patients can consult with a clinical hematologist to discuss options such as hydroxyurea, folic acid, multivitamins, and medications tailored to specific symptoms like anemia or pain. These treatments do not cure the disease but help manage symptoms. The only curative treatment currently available is a bone marrow transplant, which replaces the defective bone marrow with healthy donor cells. This procedure can be performed as early as two years of age and even in adulthood, with a success rate of 70-90% at Continental Hospitals.
-What recent advancements have been made in the treatment of sickle cell disease?
Recent advancements include gene therapy, where genetic scissors are used to cut out the defective gene and replace it with a healthy one. While promising, gene therapy is currently quite expensive. Bone marrow transplants remain the most viable and cost-effective option for many patients.
- How is sickle cell disease diagnosed?
Sickle cell disease can be diagnosed with a simple blood test called hemoglobin electrophoresis. This test can confirm the presence of sickle cell disease or carrier status, with results available in about a day. It is crucial for early detection and prevention, especially for couples planning to have children, as the disease is inherited in an autosomal recessive pattern.
- What is the importance of carrier detection in sickle cell disease?
Carrier detection is essential because individuals with one defective gene copy may not show symptoms but can pass the gene to their offspring. If both parents are carriers, there is a high risk of their child inheriting sickle cell disease. Prenatal genetic testing can detect the disease in the fetus, allowing for early intervention and informed decision-making.
- What is your message to the community on World Sickle Cell Day?
My message to the community is to raise awareness about sickle cell disease and the importance of early detection and intervention. I urge couples planning to have children to undergo carrier screening and consult with a clinical hematologist for guidance. Together, we can improve the quality of life for those affected by sickle cell disease and work towards a future where this condition can be effectively managed and ultimately cured.
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