What is a hallmark of beta-thalassemia?

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In beta-thalassemia, the primary issue is an impairment in the production of hemoglobin, specifically the beta chains of hemoglobin. This results in a decrease in the formation of hemoglobin A and an increase in abnormal forms of hemoglobin, such as hemoglobin F (fetal hemoglobin) and possibly hemoglobin A2. The imbalance in globin chain production leads to ineffective erythropoiesis and the characteristic microcytic anemia seen in patients with this condition. Consequently, the hallmark of beta-thalassemia is indeed abnormal hemoglobin production due to the genetic mutations affecting beta-globin synthesis. This disruption is central to the pathophysiology of the disease, distinguishing it from other hematological conditions that may involve white blood cell count changes, iron metabolism, or allergic responses.

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