How to Check for Thalassemia?

Thalassemia Diagnosis and Treatment

Thalassemia is a genetic disorder typically diagnosed through blood routine examination, hemoglobin electrophoresis, genetic testing, and other methods. If you suspect having thalassemia, it is advisable to seek medical attention promptly and undergo relevant tests under the guidance of a physician.

1. Blood Routine Examination

Patients with thalassemia exhibit microcytic hypochromic anemia, which can be detected through blood routine examination. If microcytic hypochromic anemia is present, it may indicate thalassemia.

2. Hemoglobin Electrophoresis

This test separates different types of globin peptide chains based on their varying molecular weights using polyacrylamide gel, allowing for the determination of the type and quantity of globin peptide chains. Abnormalities detected may suggest thalassemia.

3. Genetic Testing

Genetic testing is the most accurate method for diagnosing thalassemia, distinguishing between β-thalassemia and α-thalassemia and providing insights into the specific severity of the condition. Upon confirmation of thalassemia, treatment measures are tailored to individual cases.

Additional diagnostic tools like bone marrow aspiration and hepatosplenic B-mode ultrasonography can further clarify the diagnosis. Mild thalassemia cases generally require no specific treatment, with regular follow-ups sufficing. In contrast, severe cases necessitate blood transfusions under medical supervision and, in some instances, hematopoietic stem cell transplantation.