What is the primary underlying issue in beta thalassemia major?

The primary underlying issue in beta thalassemia major is indeed related to a mutation in the beta globin gene. In beta thalassemia, the condition stems from genetic mutations that affect the synthesis of the beta chain of hemoglobin. These mutations can vary, but a common type is a nonsense mutation, which leads to a premature termination of the protein synthesis. As a result, individuals with beta thalassemia major produce either very little or no beta globin chains, which are crucial for forming functional hemoglobin.

Due to the lack of effective hemoglobin, patients experience severe anemia, leading to symptoms such as fatigue and pallor, along with potential complications from iron overload due to frequent blood transfusions required to manage the anemia. The severe reduction in beta globin chain production disrupts the balance with alpha globin chains, contributing to ineffective erythropoiesis and the characteristic findings on blood tests.

The nature of the mutation and its consequences on hemoglobin production is fundamental in understanding the pathology of the disease, which is why this option correctly identifies the primary underlying issue in beta thalassemia major. Other options do not address the genetic basis of the disease or describe factors that lead to anemia in different contexts, making them less