From the Research
The workup for thalassemia should begin with a complete blood count (CBC) and peripheral blood smear, followed by hemoglobin electrophoresis and molecular studies to identify mutations of globin genes, as recommended by the most recent study 1. The diagnosis of thalassemia involves a comprehensive workup, including:
- Complete blood count (CBC) and peripheral blood smear to identify microcytic hypochromic anemia with target cells and basophilic stippling
- Hemoglobin electrophoresis to identify abnormal hemoglobin patterns, with elevated HbA2 (>3.5%) suggesting beta-thalassemia trait and normal or reduced HbA2 with elevated HbF pointing to alpha-thalassemia
- Iron studies to exclude iron deficiency, as both conditions present with microcytosis
- Genetic testing to confirm the diagnosis and determine the specific mutations present, which helps classify the severity (trait, intermedia, or major) 2
- Family screening is important since thalassemia is inherited in an autosomal recessive pattern For severe cases, additional evaluations may include liver function tests, serum ferritin to assess iron overload, and imaging studies like cardiac MRI to monitor organ damage from iron deposition, as thalassemias result from genetic defects in globin chain production, leading to imbalanced hemoglobin synthesis and subsequent red blood cell destruction 3, 4. The most recent study 1 highlights the importance of advances in hemoglobinopathies and thalassemia evaluation, including biochemical and molecular investigation of Hb disorders. It is essential to note that the classification of thalassemia has evolved, and the current classification is based on the clinical severity of patients, determining whether they require regular blood transfusions to survive (transfusion-dependent thalassemia) or not (non-transfusion-dependent thalassemia) 2.