Question
How do you interpret the results of a Mediterranean Anemia genetic test?
Answer
Mediterranean anemia is a disease caused by genetic mutations that hinder the synthesis of hemoglobin polypeptide chains, presenting as microcytic hypochromic anemia, decreased red blood cell fragility, and the presence of varying sizes of red blood cells and target-shaped red blood cells on a blood smear. In individuals with genotypes such as α3.7/αα for males and αCSα/αα for females, it may be necessary to perform surgery or use iron chelating agents to promote iron excretion, along with the use of corticosteroids to manage hemolytic crises.