Sickle Cell Disease: Causes, Symptoms, and Treatment
DOI:
https://doi.org/10.63995/KRPR3602Keywords:
Anemia; Hemoglobin S; Hydroxyurea; Pain Management; Sickle Cell Crises; Stem Cell TransplantAbstract
Sickle Cell Disease (SCD) is a hereditary blood disorder caused by a mutation in the hemoglobin-beta gene found on chromosome 11. This mutation results in the production of abnormal hemoglobin, known as hemoglobin S, which can cause red blood cells to assume a sickle or crescent shape. These misshapen cells are prone to clumping and blocking blood flow in small blood vessels, leading to various complications. The symptoms of SCD typically begin in early childhood and include episodes of severe pain, known as sickle cell crises, which occur when blood flow is obstructed. Other symptoms include anemia, fatigue, swelling in the hands and feet, frequent infections, and delayed growth. Chronic complications can affect the organs, leading to issues such as stroke, acute chest syndrome, organ damage, and leg ulcers. Treatment for SCD focuses on managing and alleviating symptoms, preventing complications, and extending the patient's life. Pain management, blood transfusions, and hydroxyurea, a medication that reduces the frequency of pain episodes and acute chest syndrome, are commonly used treatments. Bone marrow or stem cell transplants offer the potential for a cure but are only suitable for a subset of patients due to the associated risks and the need for a compatible donor. Ongoing research aims to develop gene therapies and new drugs to improve the quality of life for those affected by this challenging disease.
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