Which laboratory study is essential for confirming a diagnosis of thalassemia?

Hemoglobin electrophoresis is essential for confirming a diagnosis of thalassemia because it allows for the detailed analysis of different types of hemoglobin present in the blood. In individuals with thalassemia, the production of one or more of the globin chains is reduced, leading to an imbalance in the ratio of hemoglobin types. During electrophoresis, abnormal patterns of hemoglobin can be identified, such as elevated levels of HbF (fetal hemoglobin) or HbA2, which are characteristic findings in various forms of thalassemia.

This testing is critical not only for diagnosis but also for determining the specific type of thalassemia, which can aid in management and genetic counseling. Other laboratory studies, while useful in the overall assessment of anemia and the differential diagnosis, do not provide the specific information about hemoglobin variants that electrophoresis does. For example, iron studies primarily assess iron status and could help differentiate between iron deficiency anemia and thalassemia, but they do not directly diagnose thalassemia itself. Similarly, a peripheral smear may indicate the presence of microcytic anemia or specific morphologic changes but lacks the specificity for types of hemoglobin which is needed to confirm thalassemia.

Thus