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Which human gene is most famous for causing sickle cell disease?
Quick Answer
The HBB gene is responsible for sickle cell disease. A single change in this gene alters hemoglobin and causes red blood cells to sickle.
The Full Story
Sickle cell disease is caused by mutations in the HBB gene, which encodes the beta-globin subunit of hemoglobin. The classic mutation changes one amino acid in the hemoglobin protein and can make red blood cells become rigid and sickle-shaped under low oxygen conditions. This can block blood flow and cause pain, anemia, and organ damage. The mutation is a well-known example of how a single DNA change can have major effects on health.
Key Facts
1.HBB encodes beta-globin
2.One amino-acid change can cause sickling
3.It is a classic single-gene disorder
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Suggested video title for this topic:
"One tiny genetic typo can change the shape of a red blood cell."
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