Sickle cell anemia is an inherited blood disorder primarily affecting hemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. In individuals with this condition, a mutation in the HBB gene causes the production of abnormal hemoglobin called hemoglobin S (HbS). Under low-oxygen conditions, HbS molecules stick together, causing red blood cells to distort into a rigid, sickle (crescent) shape. Unlike normal round red blood cells, sickle cells are less flexible and tend to clump together, leading to blockages in small blood vessels.
These blockages impair blood flow, reducing oxygen supply to tissues and organs, which can result in episodes of intense pain known as "sickle cell crises." Over time, sickle cell anemia can lead to complications like chronic anemia, organ damage (particularly in the spleen, kidneys, and liver), stroke, and an increased risk of infections. Sickle cells also have a shorter lifespan than normal red blood cells, surviving for only 10-20 days compared to the typical 120 days, further contributing to anemia.
The condition is most common among individuals of African, Mediterranean, Middle Eastern, and Indian ancestry. Management of sickle cell anemia includes hydration, pain relief, blood transfusions, and, in some cases, bone marrow transplants. Advances in gene therapy offer hope for potential cures in the future. However, ongoing care and treatment are critical to improving the quality of life for those affected.
People with sickle cell anemia often experience the following:
Sickle cell anemia is caused by a mutation in the gene responsible for hemoglobin (the protein in RBCs that carries oxygen). This mutation is inherited from both parents. If a person inherits one sickle cell gene from each parent, they develop the disease. If they inherit only one sickle cell gene, they are carriers (called "sickle cell trait") but may not show symptoms.
People with sickle cell anemia often experience the following:
Doctors diagnose sickle cell anemia using:
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For this topic, our authors used some of the following resources:
American Society of Hematology | Sickle Cell Disease
Johns Hopkins Medicine | Sickle Cell Disease
National Institutes of Health (NIH) (.gov) | What Is Sickle Cell Disease? - NHLBI
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Dr. A. V. S. Suresh is a distinguished Senior Consultant Medical Oncologist and Hematologist at Continental Hospitals, Hyderabad. With over two decades of clinical ex...
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