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How do inherited disorders like sickle cell disease work?

Human BiologyGenetics

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

1.Sickle cell disease is caused by mutations in the HBB gene
2.It is usually inherited in an autosomal recessive pattern
3.Sickled cells can block small blood vessels

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Suggested video title for this topic:

"One gene mutation that changes the shape of blood cells."