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The α-globin genes, HBA1 and HBA2, located on chromosome 16, control the production of the a-globin chain. They are a part of the alpha-globin gene family, which also includes two pseudogenes with similar sequences but do not encode functional proteins. A tightly controlled process balances the production of alpha and beta chains to ensure efficient hemoglobin function.

Disruptions in a-globin production can lead to severe health disorders, including alpha-thalassemia and hemoglobin H disease. Alpha-thalassemia occurs when one or more of the four a-globin genes are missing or mutated, leading to decreased a-globin production and causing an excess of beta chains. This imbalance can lead to mild to severe anemia, depending on the number of affected a-globin genes. Hemoglobin H disease, a subtype of alpha-thalassemia, occurs when three of the four a-globin genes are dysfunctional or missing.

With modern advances in molecular biology and genetics, scientists can now identify specific mutations responsible for disorders linked to a-globin. Furthermore, ongoing research into gene therapy aims to correct or replace faulty genes, providing hope for a definitive cure for conditions such as alpha-thalassemia.