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Sickle-cell anemia is a human disease that occurs as a result of what type of mutation in the β-globin gene?

User Kevin
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Final answer:

Sickle-cell anemia results from a single base change in the β-globin gene that causes a single amino acid substitution in the beta chain of hemoglobin, leading to red blood cells with an abnormal sickle shape.

Step-by-step explanation:

Sickle-cell anemia is caused by a mutation in the β-globin gene. This mutation is a single base change from a normal allele, which leads to the production of abnormal hemoglobin. The pathway from DNA to functional hemoglobin involves the specific sequencing of amino acids in the protein chain, and a mutation in the DNA sequence can change this.

Specifically, in sickle-cell anemia, the mutation causes a single amino acid substitution in the beta chain of hemoglobin. This alteration causes erythrocytes, or red blood cells, to take on a sickle or crescent shape. As a result, these abnormal cells can obstruct capillary flow and inhibit oxygen delivery within the body, manifesting in the symptoms associated with sickle-cell anemia, such as painful episodes and potential organ damage.

User Lukasz Stelmach
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