2. 疾患領域
  3. Sickle Cell Disease

Sickle Cell Disease

Sickle cell disease (SCD) is a group of inherited blood disorders characterized by the production of abnormal hemoglobin (Hb S), resulting in rigid, sickle-shaped red blood cells that cause chronic hemolytic anemia, vasoocclusive crises, and progressive organ damage. The disease arises from a mutation in the β-globin gene, most commonly as homozygous Hb S (sickle cell anemia), but can also occur in compound heterozygotes with Hb C or β-thalassemia. These deformed cells obstruct small blood vessels, impairing oxygen delivery and leading to recurrent pain episodes, increased risk of infections, stroke, pulmonary hypertension, acute chest syndrome, splenic sequestration, and delayed growth. Chronic hemolysis contributes to anemia, jaundice, and complications such as leg ulcers and elevated risk of vascular events. Symptoms typically manifest in early childhood, and while management focuses on symptom relief and prevention of complications, curative options such as hematopoietic stem cell transplantation and gene therapy are emerging.

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