What is primarily produced as a result of Beta thalassemia with 1 bad gene?

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In individuals with beta thalassemia, the production of beta globin chains is impaired due to mutations in the beta globin gene. When one gene is affected, this leads to a relative excess of alpha globin chains compared to the beta chains. Since there aren't enough beta globin chains to form normal hemoglobin A (which is composed of two alpha and two beta chains), the surplus of alpha chains tends to pair up with each other, leading to an accumulation of beta tetramers, also known as "Hb H" when referring to the tetrameric form of hemoglobin made up entirely of alpha chains.

While hemoglobin A2 and hemoglobin F are produced in varying amounts in beta thalassemia, they do not represent the primary abnormality caused by the imbalance in globin production in the case of one defective beta gene. Hemoglobin A2 consists of two alpha and two delta chains and its levels can be elevated in beta thalassemia, but this is not the main result of the single gene defect. Hemoglobin F, which is composed of two alpha and two gamma chains, also increases during childhood but is not predominantly produced as a direct outcome of the disorder in adults.

Chronic hyperbilirubinemia

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