Your Blood Test Results: Do You Have Thalassemia?

Q: Your Blood Test Results: Do You Have Thalassemia?

Thalassemia, also known as Mediterranean anemia, is a congenital blood disorder related to genetic inheritance from parents. <br>Patients have red blood cells that are more fragile and prone to destruction, resulting in insufficient oxygen-carrying capacity, which can severely im

Mediterranean anemia (also known as thalassemia)

Hello Doctor, I recently underwent an electrophoresis test and would like to ask about my results.
My mean corpuscular volume (MCV) is normal, but my hemoglobin A1 and F levels are abnormal.
Does this mean I have thalassemia? Here are my test results: Hemoglobin BART'S 0, Hemoglobin A1 89 (normal range 96-98), Hemoglobin F 8.8 (normal range 0-2), Hemoglobin S 0 (normal range 0), Hemoglobin A2 2.2 (normal range 0-3.5; CH<5), Hemoglobin H 0 (normal range 0), Red blood cell count 5.09 (male normal range 4.5-6), Hemoglobin 15.5 (normal range male 14-18), Mean corpuscular volume 95.1 (normal range 80-100).
Thank you for your response, Doctor.

A Kai, 10~19 year old female. Ask Date: 2009/07/06

Dr. Huang Shaoxin reply Family Medicine

Thalassemia, also known as Mediterranean anemia, is a congenital blood disorder related to genetic inheritance from parents.
Patients have red blood cells that are more fragile and prone to destruction, resulting in insufficient oxygen-carrying capacity, which can severely impact their ability to live normally.
Screening can be conducted during premarital health checks, as it is an autosomal recessive genetic disorder.
The red blood cells of patients are smaller in volume compared to normal cells and may appear pale or exhibit target cell morphology due to lower hemoglobin content.

There are several types of thalassemia, with the most severe being alpha and beta thalassemia.
In alpha thalassemia, there is a complete loss of function in the production of alpha globin chains.
Conversely, in beta thalassemia, there is reduced or absent production of beta globin chains.
It is estimated that about 6% of the population in Taiwan are carriers of some form of thalassemia.
Key diagnostic points include: 1.
Anemia.
2.
Abnormal red blood cell morphology, typically with a low mean corpuscular volume (MCV).
3.
A family history of the disorder (hereditary).
4.
For patients with beta thalassemia, hemoglobin electrophoresis shows elevated levels of Hb A2 and Hb F.
Normal adult hemoglobin consists of Hb A (97-99%), Hb A2 (1-3%), and Hb F (<1%).

Alpha thalassemia is commonly found in China and Southeast Asia and is caused by gene deletions, resulting in fewer than four alpha globin genes.
Patients with alpha thalassemia exhibit abnormalities in the HBA1 and HBA2 genes.
In adults, this leads to excessive production of beta chains, while in newborns, there is an overproduction of gamma chains.

Mild cases may present with slight anemia and no symptoms.
Hb H disease is characterized by pallor and splenomegaly.
In beta thalassemia, mutations occur in the HBB gene on chromosome 11.
Abnormal cells produce excessive alpha chains, which can bind to the red blood cell membrane, causing membrane damage; if the concentration is too high, there is a risk of forming toxic aggregates.

Reply Date: 2009/07/06

More Info

When interpreting blood test results, particularly in the context of thalassemia or Mediterranean anemia, it is essential to understand the significance of the various parameters measured. Based on the data you provided, let's break down the results and assess the likelihood of thalassemia.

Key Parameters from Your Report:
1. Hemoglobin A1 (HbA1): 89 (normal range: 96-98)
2. Hemoglobin F (HbF): 8.8 (normal range: 0-2)
3. Hemoglobin A2 (HbA2): 2.2 (normal range: 0-3.5)
4. Red Blood Cell Count (RBC): 5.09 (normal for males: 4.5-6)
5. Hemoglobin (Hb): 15.5 (normal for males: 14-18)
6. Mean Corpuscular Volume (MCV): 95.1 (normal range: 80-100)

Interpretation:
1. Hemoglobin A1 and F Levels: The significant finding in your report is the elevated level of Hemoglobin F (8.8), which is notably higher than the normal range. Hemoglobin F is typically present in fetuses and newborns, and its persistence into adulthood can indicate certain types of hemoglobinopathies, including thalassemia.

2. Normal Hemoglobin A2: Your Hemoglobin A2 level is within the normal range, which is a positive sign. In beta-thalassemia, you would typically expect to see an elevated HbA2 level.

3. Normal RBC and Hemoglobin Levels: Your RBC count and total hemoglobin levels are within normal limits, which suggests that you are not currently anemic. This is important because many patients with thalassemia may present with anemia, especially in more severe forms.

4. Mean Corpuscular Volume (MCV): Your MCV is also within the normal range. In thalassemia, particularly beta-thalassemia, the MCV is often low due to the microcytic nature of the red blood cells. A normal MCV can make thalassemia less likely, although it does not completely rule it out.

Conclusion:
Based on the provided data, while the elevated Hemoglobin F is a point of concern, the normal levels of Hemoglobin A2, RBC count, and MCV suggest that you may not have thalassemia. However, the presence of elevated Hemoglobin F could indicate other conditions, such as hereditary persistence of fetal hemoglobin (HPFH) or other hemoglobinopathies.

Recommendations:
1. Further Testing: It is advisable to consult with a hematologist for further evaluation. They may recommend additional tests such as a complete blood count (CBC), iron studies, and possibly genetic testing to clarify the diagnosis.

2. Family History: If there is a family history of thalassemia or other blood disorders, this information can be crucial in understanding your risk and guiding further testing.

3. Monitoring Symptoms: Keep track of any symptoms you may experience, such as fatigue, weakness, or any signs of anemia, and report these to your healthcare provider.

4. Follow-Up: Regular follow-up with your healthcare provider is essential to monitor your blood parameters and ensure that any potential issues are addressed promptly.

In summary, while your results show some abnormalities, they do not definitively indicate thalassemia. A thorough evaluation by a specialist will provide clarity and guide any necessary interventions.

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