Thalassemia: Symptoms, Diagnosis, and Management

Is there such a condition as oceanic anemia?

Hello Doctor: I recently underwent a health check-up, and many of my blood test results did not meet the standard values.
I would like to ask if I might have thalassemia.
(On the day of the health check, I happened to be at the end of my menstrual period, and I am unsure if this could affect the results.) Here are my results: RBC 449; HB 10.6; HT 32.3; MCV 72.0; MCH 23.7; MCHC 32.9.
The values from my previous health check were: RBC 435; HB 10.1; HT 29.3; MCV 67.4; MCH 23.2; MCHC 34.5.
I also had a recheck at another hospital with the following results: RBC 483; HB 10.4; HT 33.6; MCV 69.5; MCH 21.6; MCHC 31.1.
A long time ago, my hemoglobin levels were within the normal range, and I even donated blood; however, I have since consistently fallen below the standard.
If I do have thalassemia, what should I be aware of? Additionally, my blood pressure during this health check was only 92/67; is there a possibility of hypotension? (In the past, I have experienced both normal and lower blood pressure readings.) Recently, I have occasionally felt dizzy, not just when standing up after squatting.
I would appreciate your guidance, thank you!

tina, 20~29 year old female. Ask Date: 2004/10/06

Dr. Huang Jianling reply Family Medicine

Your blood test results show low MCV (mean corpuscular volume) and low Hb (hemoglobin), which clinically suggests microcytic hypochromic anemia.
This is often associated with either thalassemia or iron deficiency anemia.
It is advisable to visit an internal medicine or family medicine clinic for further blood tests to differentiate between the two.
If it is determined to be iron deficiency anemia, the underlying cause should be identified before considering treatment.
If it is thalassemia, it is genetic and typically does not require treatment.
Your blood pressure is slightly low; it is recommended to engage in more physical activity, as coffee or tea can help increase blood pressure.

Reply Date: 2004/10/06

More Info

Thalassemia is a genetic blood disorder characterized by the reduced production of hemoglobin, which is essential for transporting oxygen in the blood. Understanding thalassemia involves recognizing its symptoms, diagnosis, and management strategies.

Symptoms of Thalassemia
Individuals with thalassemia may experience a range of symptoms, which can vary in severity depending on the type of thalassemia (alpha or beta) and the extent of the hemoglobin deficiency. Common symptoms include:
1. Anemia: This is the most prominent symptom, leading to fatigue, weakness, and pallor due to low hemoglobin levels.

2. Jaundice: The breakdown of red blood cells can lead to an accumulation of bilirubin, causing yellowing of the skin and eyes.

3. Enlarged Spleen and Liver: The body’s attempt to produce more red blood cells can lead to splenomegaly (enlarged spleen) and hepatomegaly (enlarged liver).

4. Bone Deformities: In severe cases, the bone marrow expands to produce more blood cells, leading to changes in bone structure, particularly in the face and skull.

5. Growth Delays: Children with thalassemia may experience delayed growth and development due to chronic anemia.

Diagnosis of Thalassemia
Diagnosis typically involves a combination of blood tests and genetic testing. Key laboratory findings in thalassemia include:
- Complete Blood Count (CBC): This test often shows low hemoglobin (Hb) levels, low hematocrit (HT), and microcytic anemia (low mean corpuscular volume, MCV).

- Hemoglobin Electrophoresis: This test helps identify the different types of hemoglobin present in the blood and can confirm the diagnosis of thalassemia.

- Genetic Testing: This can identify mutations in the genes responsible for hemoglobin production, confirming the diagnosis and determining the specific type of thalassemia.

In your case, the blood test results indicate low hemoglobin levels (10.6 g/dL), low MCV (72.0 fL), and low MCH (23.7 pg), which are suggestive of microcytic anemia. Given your history of low hemoglobin levels and the recent values, it is reasonable to consider thalassemia as a potential diagnosis, especially if you have a family history of the condition or if you belong to a population with a higher prevalence of thalassemia.

Management of Thalassemia
Management strategies for thalassemia depend on the severity of the condition:
1. Mild Cases: Individuals with mild thalassemia may not require treatment but should be monitored regularly.

2. Moderate to Severe Cases: These may require regular blood transfusions to maintain adequate hemoglobin levels. Iron chelation therapy may also be necessary to prevent iron overload from repeated transfusions.

3. Folic Acid Supplements: These can help support red blood cell production.

4. Bone Marrow or Stem Cell Transplant: This is a potential cure for severe thalassemia but is typically reserved for younger patients with a suitable donor.

5. Genetic Counseling: For individuals with thalassemia or those planning to have children, genetic counseling can provide information about the risks of passing the condition to offspring.

Additional Considerations
Regarding your blood pressure reading of 92/67 mmHg, this may indicate low blood pressure (hypotension), which can contribute to symptoms such as dizziness or fainting. It is essential to monitor your blood pressure regularly, especially if you are experiencing dizziness. Factors such as dehydration, prolonged standing, or certain medications can contribute to low blood pressure.

Given your symptoms of occasional dizziness and the history of low hemoglobin levels, it is advisable to consult with a healthcare provider for a comprehensive evaluation. They may recommend further testing, including a reticulocyte count, iron studies, and possibly a referral to a hematologist for specialized care.

In summary, thalassemia is a significant condition that requires careful monitoring and management. If you suspect you may have thalassemia, it is crucial to discuss your concerns with a healthcare professional who can guide you through the diagnostic process and appropriate management strategies.

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