Mediterranean Anemia: Diagnosis and Concerns

Diagnosis of Mediterranean Anemia

Hello Doctor, during my annual health check, I always have a lot of abnormal results in my complete blood count.
This year's data is as follows: RBC 567 (high), HB 11.6 (low), MCV 66.1 (low), MCH 20.5 (low), MCHC 30.9 (low), with the rest being normal.
The data from previous years is not significantly different from this year's.
I suspect that I might have thalassemia, so I underwent hemoglobin electrophoresis this year, and the results were as follows: HbA1 96.9 (normal), HbA2 2.6 (normal), HbF 0.5 (normal).
Additionally, I had a protein electrophoresis done last year, and the doctor said it was iron deficiency anemia.
However, with a high RBC and low MCV, doesn't that indicate typical thalassemia? Can the above data determine whether I have thalassemia or iron deficiency anemia? Is it possible to have both conditions simultaneously? I am quite anxious as I am getting married next year, and my partner seems to also have thalassemia.
I hope the doctor can help me with this.
Thank you very much!

Niming, 20~29 year old female. Ask Date: 2015/09/18

Dr. Wu Fangcan reply Family Medicine

Based on the aforementioned content, it is possible that you are a carrier of thalassemia, as the lack of iron studies makes it difficult to assess for iron deficiency anemia.
You may be an alpha-thalassemia carrier (this type of anemia is controlled by four genes, and having one or two abnormal genes may not result in significant anemia).
It is advisable to consult a pediatric hematologist for further evaluation along with your partner.

Reply Date: 2015/09/18

More Info

Understanding Mediterranean Anemia, also known as Thalassemia, is crucial, especially when considering its implications for health and family planning. Based on the blood test results you've provided, let's break down the findings and clarify your concerns regarding the potential diagnosis of Mediterranean Anemia versus Iron Deficiency Anemia.

Blood Test Results Analysis
1. RBC (Red Blood Cell Count): Your RBC count is elevated at 567, which can sometimes indicate a compensatory response to anemia, where the body produces more red blood cells to maintain oxygen delivery despite lower hemoglobin levels.

2. Hemoglobin (HB): Your hemoglobin level is low at 11.6 g/dL, which is below the normal range for adult females. This suggests some form of anemia.

3. MCV (Mean Corpuscular Volume): A low MCV of 66.1 fL indicates microcytic anemia, which is common in both Iron Deficiency Anemia and Thalassemia.

4. MCH (Mean Corpuscular Hemoglobin): Your MCH is also low at 20.5 pg, which again aligns with microcytic anemia.

5. MCHC (Mean Corpuscular Hemoglobin Concentration): A low MCHC of 30.9 g/dL further supports the diagnosis of anemia.

Hemoglobin Electrophoresis Results
The hemoglobin electrophoresis results you provided show:
- HbA1: 96.9% (normal)
- HbA2: 2.6% (normal)
- HbF: 0.5% (normal)
These results indicate that your hemoglobin composition is within normal limits. In individuals with Thalassemia, you would typically see an elevated HbA2 or HbF level. The normal HbA2 level suggests that you likely do not have Mediterranean Anemia (Thalassemia).

Iron Studies and Diagnosis
Given that you have previously been diagnosed with Iron Deficiency Anemia, it is essential to consider that the elevated RBC count alongside low hemoglobin and low MCV could indicate a mixed picture. It is possible to have both Iron Deficiency Anemia and Thalassemia trait, although they are distinct conditions.

Conclusion and Recommendations
Based on your current data:
- The normal hemoglobin electrophoresis results suggest that you do not have Mediterranean Anemia.

- Your symptoms and blood results are more consistent with Iron Deficiency Anemia, particularly given the low hemoglobin and microcytic indices.

Next Steps
1. Further Testing: It may be beneficial to conduct additional iron studies, including serum ferritin, serum iron, total iron-binding capacity (TIBC), and transferrin saturation to confirm the diagnosis of Iron Deficiency Anemia.

2. Genetic Counseling: Since your partner may also have Mediterranean Anemia, consider genetic counseling to understand the implications for your future children. Testing for Thalassemia traits in both partners can provide clarity on the risk of having children with Thalassemia.

3. Dietary Adjustments: If Iron Deficiency Anemia is confirmed, dietary changes to include iron-rich foods (like red meat, beans, lentils, and fortified cereals) and possibly iron supplementation may be necessary.

4. Regular Monitoring: Continue regular blood tests to monitor your hemoglobin levels and overall health, especially as you approach your wedding and potential family planning.

In summary, while your blood results indicate some form of anemia, the normal hemoglobin electrophoresis suggests that Mediterranean Anemia is unlikely. Focus on addressing the Iron Deficiency and consider genetic counseling regarding your partner's condition.

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