Medical Laboratory Scientist ASCP Practice Exam 2025 – Complete Study Guide

The primary characteristic of beta thalassemia major is the presence of severe anemia and splenomegaly. This condition arises due to mutations in the beta-globin gene, which leads to inadequate production of beta-globin chains. As a result, the patient produces less hemoglobin, particularly hemoglobin A, leading to severe anemia. The body responds to anemia by increasing the production of erythropoietin, stimulating the bone marrow to produce more red blood cells. However, the ineffective erythropoiesis due to the lack of adequate beta globin results in a proliferation of immature or ineffective red blood cells, contributing to the anemia.

Splenomegaly occurs as a secondary complication due to the increased destruction of these defective red blood cells by the spleen, which works overtime to clear the hemolytic components. Over time, the combination of severe anemia and splenomegaly can lead to significant morbidity in affected individuals, such as fatigue, pallor, and an increased risk of infections due to splenic dysfunction.

The increase in Hb A2 and Hb F levels, although present, are secondary findings and do not define the major characteristics of the disease as clearly as the severe anemia and splenomegaly. Normal