Blood Test Results: Do You Need Further Testing for Thalassemia? - Family Medicine

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Blood Test Consultation


Hello Doctor, thank you for taking the time to answer my questions.
I have mild mitral valve prolapse and my usual heart rate is around 100 beats per minute.
I have been taking Concor 5mg for the past two years, but I stopped the medication last year.
On the 15th of this month, I visited a rheumatologist due to joint pain, chronic fatigue, frequent colds, inflammation, and the appearance of painless, itchy red-purple spots.
Below are my blood test results:
S-GOT 14.000 IU/L
S-GPT 11.000 IU/L
Rheumatoid factor <10 IU/mL
High-sensitivity C-reactive protein 0.027 mg/dL
ESR/1hr 4.000 mm/hr
Eosinophils 0.400%
MCH 19.8 pg
MCHC 30.8 g/dL
MCV 64.2 fL
RDW 18.5%
Platelet count 481 × 10^3/µL
Hb 10.1 g/dL
Hct 32.7%
In my reports from 2020, MCH, MCHC, and Hb were all low, and in one report, the platelet count was high while in another, the red blood cell count was high.
At that time, the doctor suspected thalassemia and advised me to schedule further testing.
I would like to ask you, based on my current blood test results, do I still need to undergo further testing to determine if I have thalassemia?

Karen, 20~29 year old female. Ask Date: 2022/04/20

Dr. Hou Angting reply Family Medicine


Hello Karen: It is generally recommended to identify the underlying cause of anemia.
You may consult with a physician at a family medicine clinic.
Wishing you good health.

Reply Date: 2022/04/20

More Info


Based on the blood test results you provided, there are several indicators that warrant further investigation, particularly concerning the possibility of thalassemia or other forms of anemia. Let's break down the relevant components of your blood test results and their implications.


Key Blood Test Results:
1. Hemoglobin (Hb): 10.1 g/dL - This is below the normal range for adults, indicating anemia.

2. Hematocrit (Hct): 32.7% - This is also low, supporting the diagnosis of anemia.

3. Mean Corpuscular Hemoglobin (MCH): 19.8 pg - This is lower than normal, which can suggest microcytic anemia, often seen in thalassemia or iron deficiency anemia.

4. Mean Corpuscular Volume (MCV): 64.2 fL - This is significantly low, indicating microcytic red blood cells, which is characteristic of thalassemia.

5. Red Cell Distribution Width (RDW): 18.5% - An elevated RDW can indicate a variation in red blood cell size, which is often seen in various types of anemia.

6. Platelet Count: 481 × 10^3/µL - This is elevated, which can occur in response to anemia or inflammation.


Symptoms:
Your symptoms of joint pain, chronic fatigue, frequent infections, and the appearance of painless purple spots (which could indicate petechiae or purpura) are concerning and may be related to an underlying hematological condition.


Thalassemia Consideration:
Given your previous history of low MCH, MCHC, and Hb, along with the current results indicating microcytic anemia, thalassemia is a strong possibility. Thalassemia is a genetic blood disorder characterized by reduced hemoglobin production, leading to anemia. The presence of microcytic red blood cells (low MCV) and low hemoglobin levels aligns with this condition.


Recommendations:
1. Further Testing: It is advisable to pursue additional tests to confirm or rule out thalassemia. These tests may include:
- Hemoglobin Electrophoresis: This test can identify different types of hemoglobin and is crucial for diagnosing thalassemia.

- Iron Studies: To assess iron levels and rule out iron deficiency anemia.

- Genetic Testing: If thalassemia is suspected, genetic testing can confirm the diagnosis and determine the specific type.

2. Consultation with a Hematologist: Given the complexity of your symptoms and blood results, consulting a hematologist would be beneficial. They can provide a comprehensive evaluation and guide you through the necessary tests and potential treatment options.

3. Monitoring Symptoms: Keep track of your symptoms, especially any changes in fatigue, joint pain, or the appearance of new spots on your skin. This information will be valuable for your healthcare provider.

4. Lifestyle Considerations: While awaiting further testing, ensure you maintain a balanced diet rich in iron and vitamins, which can support your overall health. However, avoid self-supplementing without medical advice, as excess iron can be harmful.


Conclusion:
Your blood test results and symptoms suggest that further investigation for thalassemia or another form of anemia is warranted. Early diagnosis and management are crucial in preventing complications associated with anemia. Please follow up with your healthcare provider to discuss these findings and the next steps in your diagnostic journey.

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