How do inherited disorders like sickle cell disease work?
Quick Answer
Sickle cell disease is caused by a mutation in the HBB gene that changes hemoglobin shape. This makes red blood cells stiff and crescent-shaped, which can block blood flow and cause pain.
The Full Story
Sickle cell disease is inherited in an autosomal recessive pattern, meaning a child usually needs two altered copies of the gene to develop the disease. The mutation affects beta-globin, part of hemoglobin, the protein that carries oxygen in red blood cells. Under low-oxygen conditions, the abnormal hemoglobin can cluster, causing cells to become rigid and sickle-shaped. These misshapen cells can break down early and clog small blood vessels, leading to anemia, pain crises, and organ damage.
Key Facts
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"One gene mutation that changes the shape of blood cells."