Dr. S K Gupta, HOD - Clinical Hematologist, Hemato Oncology, BMT Specialist, Cellular Therapy, explains sickle cell disease and its management.
- What is sickle cell disease?
Sickle cell disease is a disorder of the hemoglobin, the protein in red blood cells that carries oxygen. In this disease, the hemoglobin is defective, causing red blood cells to become rigid and sickle-shaped. This abnormal shape impairs their ability to move freely in the bloodstream, leading to decreased blood supply to critical organs and early destruction of red blood cells, resulting in anemia.
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- How do people get sickle cell disease?
Sickle cell disease is a genetic disorder inherited from one or both parents who carry the defective sickle cell gene. It follows an autosomal recessive inheritance pattern, meaning both copies of the gene must be defective for the disease to manifest.
- What are the symptoms of sickle cell disease?
The symptoms include anemia (low hemoglobin levels), which leads to weakness, tiredness, and fatigue. Patients often experience significant pain, particularly bone pain, which can hinder daily activities. Other complications include pain crises, increased susceptibility to infections, aplastic crises (sudden drops in hemoglobin), sequestration crises (sudden spleen enlargement), strokes, and organ impairments affecting the kidneys and liver.
- How is sickle cell disease diagnosed?
Sickle cell disease can be diagnosed through blood tests, such as hemoglobin electrophoresis. Genetic testing can also be used to identify the sickle cell gene and prevent the disorder in future generations.
- What treatments are available for sickle cell disease?
The primary curative therapy for sickle cell disease is a bone marrow transplant, which replaces defective blood cell production with healthy donor cells. Medications like hydroxyurea and folic acid help manage symptoms. Regular follow-ups with a clinical hematologist and proper hydration are crucial. Despite concerns, hydroxyurea is safe and beneficial for managing the disease.
- What are the potential complications of sickle cell disease?
Complications include strokes, kidney and liver impairments, avascular necrosis of the bones (leading to severe joint pain and potential joint replacements), and organ damage due to prolonged reduced blood supply.
- What measures can help prevent complications in sickle cell disease?
A: Staying hydrated, taking prescribed medications like folic acid and hydroxyurea, and having regular follow-ups with a hematologist to monitor organ health are key measures. Hydroxyurea, despite myths, is safe and effective when used correctly.
- What advancements are there in the treatment of sickle cell disease?
A: Gene therapy is an emerging treatment, though it is currently costly. Ongoing follow-ups with a hematologist are essential to stay updated on new treatments and manage the disease effectively.
- What should patients and families do if they have or suspect sickle cell disease?
Patients and their families should consult a hematologist for proper diagnosis, treatment, and management of the disease. Early and regular medical consultation can prevent severe complications and improve the quality of life.
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26 авг 2024
