From the Guidelines
Normal serum ferritin is the false statement regarding Beta-Thalassemia Major.
Rationale
- Beta-Thalassemia Major is characterized by a severe reduction or absent production of the beta (β) globin chains 1, which leads to ineffective erythropoiesis and profound anemia.
- Patients with Beta-Thalassemia Major require lifelong blood transfusions, which can lead to iron overload, and therefore, elevated serum ferritin levels are commonly seen in these patients 1.
- The disease is also associated with an increased erythrocyte count due to extramedullary hematopoiesis and ineffective erythropoiesis, but this can be variable.
- The key issue in Beta-Thalassemia Major is the reduced beta (β) globin chains, which is a direct consequence of the genetic defect underlying the disease 1.
- Elevated serum ferritin is a common finding due to iron overload from frequent blood transfusions, making normal serum ferritin an unlikely scenario in the context of Beta-Thalassemia Major 1.
From the Research
Characteristics of Beta-Thalassemia Major
- Beta-Thalassemia Major is characterized by reduced beta (β) globin chains 2, 3, 4
- It is a severe transfusion-dependent anemia 3, 4
- Patients with Beta-Thalassemia Major often have low erythrocyte count due to ineffective erythropoiesis and premature red blood cell destruction 2, 3
- Elevated serum ferritin levels are common in Beta-Thalassemia Major due to iron overload from repeated transfusions 2, 5, 6
False Statement
- Normal or increased erythrocyte count is the false statement regarding Beta-Thalassemia Major, as patients with this condition typically have a low erythrocyte count 2, 3
- Normal serum ferritin is also not typical for Beta-Thalassemia Major, as iron overload is a common complication of the disease 2, 5, 6
- Reduced beta (β) globin chains is a characteristic of Beta-Thalassemia Major 2, 3, 4