Questions related to testing for Mediterranean anemia!!
I previously underwent a health check-up, and the results showed a series of abnormal blood test results.
Upon re-examination, the results remained the same.
Here are the relevant test data: [1] WBC 7.34 (Eosin 1.2) [2] RBC 6.78 (Baso 1.3) [3] Hb 12.3 [4] Ht 40.6 [5] MCV 59.9 [6] MCH 18.1 [7] MCHC 30.3 [8] PL 128 [9] RDW-CV 22.8 [10] N.seg 73.6 [11] Lym 21.1 [12] Mono 3.8.
The doctor mentioned vaguely that I might have alpha-thalassemia, but I don't quite understand.
My questions are: 1.
What further tests are needed to confirm if I have Mediterranean anemia (thalassemia)? 2.
Will these tests be out-of-pocket expenses? What is the approximate cost? Thank you in advance for taking the time to answer.
Best wishes.
SuNNy, 20~29 year old female. Ask Date: 2005/06/10
Dr. Tang Jieru reply Cardiology
Hello SuNNy: You have a high possibility of having mild thalassemia (formerly known as Mediterranean anemia).
I suspect that you usually do not have any symptoms, and this was likely discovered during routine check-ups or health examinations.
The main concern is that your mean corpuscular volume (MCV) is too low (normal range is 80-100, yours is 59.9).
However, your hemoglobin level is normal (Hb=12.3, normal >12.0), so you will not experience any symptoms; your red blood cells are just smaller, but their function is normal, and there is no need for medication.
Just make sure that your partner also undergoes a health examination before marriage, and it is important that not both of you have thalassemia (if both partners are carriers, there is a 25% chance of having a child with severe thalassemia).
For a more definitive diagnosis, a serum electrophoresis can be performed; it is covered by health insurance and costs about 300 NTD.
However, electrophoresis can only diagnose β-Thalassemia and cannot diagnose α-Thalassemia.
To confirm α-Thalassemia, genetic analysis is required, but it can cost tens of thousands of NTD, is not covered by health insurance, and is generally not available at regular hospitals; you may need to go to a medical center.
However, it is usually unnecessary to perform this test, as it has no clinical significance.
Reply Date: 2005/06/10
More Info
Mediterranean anemia, commonly referred to as thalassemia, is a genetic blood disorder characterized by the body’s inability to produce adequate hemoglobin, leading to anemia. Your laboratory results indicate some abnormalities that could suggest a form of anemia, particularly the low hemoglobin (Hb) level of 12.3 g/dL and the low mean corpuscular volume (MCV) of 59.9 fL, which is indicative of microcytic anemia. This type of anemia is often associated with iron deficiency or thalassemia.
1. Confirmatory Tests for Mediterranean Anemia
To confirm whether you have Mediterranean anemia (thalassemia), the following tests are typically recommended:
- Hemoglobin Electrophoresis: This test separates different types of hemoglobin in your blood. It can help identify abnormal hemoglobin types associated with thalassemia and other hemoglobinopathies.
- Genetic Testing: If hemoglobin electrophoresis indicates the presence of thalassemia, genetic testing can confirm the specific type of thalassemia (alpha or beta) and determine if you are a carrier or have the disease.
- Iron Studies: These tests measure your iron levels, ferritin, and total iron-binding capacity (TIBC) to rule out iron deficiency anemia, which can present similarly to thalassemia.
- Complete Blood Count (CBC): While you have already had this test, it may be repeated to monitor changes in your blood parameters over time.
2. Costs and Insurance Coverage
The costs for these tests can vary significantly based on your location, the healthcare facility, and whether you have insurance coverage. Here’s a rough estimate of the costs you might expect:
- Hemoglobin Electrophoresis: This test typically costs between $100 to $300.
- Genetic Testing: The cost can range from $300 to over $1,000, depending on the specific tests performed and the laboratory used.
- Iron Studies: This panel usually costs between $50 to $150.
- Complete Blood Count (CBC): This test is generally less expensive, costing around $10 to $50.
It’s important to check with your healthcare provider and insurance company to understand what tests are covered under your plan and what your out-of-pocket expenses might be. Some insurance plans may cover these tests if they are deemed medically necessary, especially if you have a family history of thalassemia or other blood disorders.
Conclusion
Given your symptoms and laboratory results, it is advisable to follow up with a hematologist or your primary care physician for further evaluation and to discuss the appropriate tests. Understanding whether you have Mediterranean anemia can help guide your management and treatment options. If you have any family history of anemia or related conditions, be sure to mention this to your healthcare provider, as it may influence the testing and diagnosis process.
In summary, while the initial results suggest a possible anemia, confirmatory tests such as hemoglobin electrophoresis and genetic testing are essential to accurately diagnose Mediterranean anemia. Be proactive in discussing these options with your healthcare provider to ensure you receive the appropriate care.
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