Blood Test Results: Is It Thalassemia? - Family Medicine

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I previously underwent a health check, and some results were not within the ideal range: mean corpuscular volume (MCV) 72 fL, mean corpuscular hemoglobin (MCH) 22.3 pg, mean corpuscular hemoglobin concentration (MCHC) 30.9 g/dL, and red blood cell (RBC) count 6.41 million cells/µL.
After reviewing the diagnostic explanation, it seems there is a possibility of thalassemia.
Could you please confirm if it is indeed thalassemia? If I want to undergo further definitive testing, should I schedule an appointment with a family medicine physician or a hematologist? Thank you.

liliane, 20~29 year old female. Ask Date: 2007/11/19

Dr. Lai Junlong reply Family Medicine


Hello: In response to your question, it is not possible to definitively determine if there is thalassemia based solely on the values you provided.
It is advisable to first consult with a family medicine clinic or a hematology clinic.

Reply Date: 2007/11/19

More Info


Interpreting blood test results can be complex, especially when considering conditions like thalassemia, commonly known as Mediterranean anemia. Based on the values you've provided, let's break down the results and assess the likelihood of thalassemia.

Your average volume (MCV) is reported at 72 fL, which is below the normal range (typically 80-100 fL). This indicates microcytic anemia, where red blood cells are smaller than average. The average hemoglobin content (MCH) is 22.3 pg, which is also low, as normal values usually range from 27 to 32 pg. The average hemoglobin concentration (MCHC) at 30.9 g/dL is within the normal range, but on the lower end. Your red blood cell count (RBC) is elevated at 6.41 million cells per microliter, which can sometimes be seen in thalassemia or other forms of anemia.

These findings suggest a microcytic anemia, which can be caused by several conditions, including iron deficiency anemia and thalassemia. In thalassemia, particularly beta-thalassemia, you would typically see microcytic anemia with an elevated RBC count, as the body attempts to compensate for the ineffective erythropoiesis (production of red blood cells).
To confirm whether you have thalassemia, further tests are necessary. The most common tests include:
1. Hemoglobin Electrophoresis: This test separates different types of hemoglobin in your blood and can help identify abnormal hemoglobin types associated with thalassemia.

2. Iron Studies: These tests measure serum iron, ferritin, total iron-binding capacity (TIBC), and transferrin saturation to rule out iron deficiency anemia.

3. Genetic Testing: If thalassemia is suspected, genetic testing can confirm the diagnosis by identifying mutations in the globin genes.

If you want to pursue further evaluation, it is advisable to consult with a hematologist, a specialist in blood disorders. They can provide a comprehensive assessment and guide you through the necessary tests. While a family medicine physician can also help, a hematologist will have more expertise in diagnosing and managing conditions like thalassemia.

In summary, while your blood test results indicate the possibility of thalassemia due to the microcytic anemia and elevated RBC count, definitive diagnosis requires additional testing. Consulting a hematologist will ensure you receive the most accurate diagnosis and appropriate management.

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