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Beta 0 thalassemia is a genetic disorder caused by a nonsense mutation in the HBB gene, which encodes the beta-globin subunit of hemoglobin. This mutation leads to a premature stop codon, resulting in the production of nonfunctional or absent beta-globin chains. As a consequence, individuals with beta 0 thalassemia have reduced or absent hemoglobin A (HbA), leading to anemia and a range of related health issues. The severity of symptoms can vary based on the specific genetic mutations and the presence of other globin gene alterations.

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3w ago

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