Mediterranean Anemia: Diagnosis and Genetic Testing Insights - Cardiology

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Mediterranean anemia, commonly known as thalassemia, is a genetic blood disorder characterized by reduced hemoglobin production, leading to anemia. The two main types are alpha-thalassemia and beta-thalassemia, with beta-thalassemia being more prevalent in Mediterranean populations. Diagnosing thalassemia involves a combination of clinical evaluation, complete blood count (CBC), and specific genetic testing.

Your recent CBC results indicate a low mean corpuscular volume (MCV) of 65.3 fL, which suggests microcytic anemia. This is often seen in both iron deficiency anemia and thalassemia. The low mean corpuscular hemoglobin (MCH) of 20.3 pg further supports this, as thalassemia typically presents with hypochromic microcytic red blood cells. However, the normal serum ferritin and transferrin saturation levels you mentioned indicate that iron deficiency is less likely, which points towards thalassemia as a potential diagnosis.

Given that you previously underwent genetic testing for alpha-thalassemia and received normal results, it is essential to consider that beta-thalassemia could still be a possibility. Genetic testing for thalassemia typically involves checking for mutations in the HBB gene, which is responsible for beta-globin production. If your previous test did not include a comprehensive analysis of both alpha and beta-globin genes, it may be worthwhile to repeat the genetic testing, specifically focusing on beta-thalassemia.

Additionally, it is important to note that thalassemia can present with varying degrees of severity. Some individuals may have mild forms of the disease that do not significantly impact their overall health, while others may experience more severe symptoms requiring treatment. Your height and weight suggest that you are generally healthy, which could indicate a milder form of thalassemia or another type of anemia that is not yet fully diagnosed.

In terms of next steps, I recommend discussing with your healthcare provider the possibility of comprehensive genetic testing that includes both alpha and beta-thalassemia mutations. This will provide a clearer picture of your condition. Furthermore, it may be beneficial to consult with a hematologist who specializes in blood disorders for a more detailed evaluation and management plan.

In summary, while your symptoms and lab results suggest a form of microcytic anemia, the exact diagnosis requires further investigation. Genetic testing for beta-thalassemia, alongside a thorough review of your clinical history and family background, will be crucial in determining the underlying cause of your anemia. If thalassemia is confirmed, your healthcare provider can guide you on appropriate management strategies to maintain your health and well-being.