Mediterranean Anemia: Symptoms, Diagnosis, and Treatment Options

Mediterranean anemia (also known as thalassemia)

Hello, Doctor.
I would like to inquire about my son's blood test results from his health check in 2019, which showed the following abnormalities: WBC 6.9 (normal range: 4.8–10.8), RBC* 6.70 (normal range: 4.7–6.1), HgB* 13.6 (normal range: 14–18), Hct 44.0 (normal range: 42–52), MCH* 20.3 (normal range: 26–34), MCV* 66 (normal range: 80–100), MCHC* 30.9 (normal range: 31–37).
There are five abnormal values marked with an asterisk (*).
The doctor mentioned that it is very likely Mediterranean anemia.
He is now 32 years old and has not had any significant issues growing up, except for one instance in high school where he experienced severe abdominal pain during exercise.
An examination revealed that his intestines are longer than average and his liver is slightly enlarged.
The doctor did not diagnose him with thalassemia nor recommend any further treatment, and he has not had any problems since then.
However, last year, the company health check suggested that he might have thalassemia.
Is it possible that he truly has Mediterranean anemia? What kind of treatment is necessary? Additionally, what implications might his intestinal and liver conditions have in the future? Furthermore, he only eats half a bowl of rice per meal and feels very full, which is significantly less than his peers.
I wonder if there is any correlation.
I would appreciate hearing your experience and advice.
Thank you for taking the time to respond!

Bi Di, 50~59 year old female. Ask Date: 2020/04/24

Dr. Cai Dongqi reply Family Medicine

Hello, thalassemia is the most common congenital anemia among Taiwanese people.
Most patients with thalassemia are actually asymptomatic and are often discovered to have low hemoglobin levels during health check-ups or other blood tests.
It is only upon further examination at a hospital that they are diagnosed with thalassemia.
Only a small number of severe cases will present with symptoms such as severe anemia, gallstones, and hepatosplenomegaly.
It is recommended that you continue to seek medical attention for further evaluation and treatment.

Reply Date: 2020/04/24

More Info

Mediterranean anemia, more commonly known as thalassemia, is a genetic blood disorder characterized by the body’s inability to produce adequate amounts of hemoglobin, the protein in red blood cells that carries oxygen. This condition is prevalent in individuals of Mediterranean descent, hence the name. Your son’s blood test results indicate several abnormalities that could suggest thalassemia, particularly the elevated red blood cell count (RBC) and low mean corpuscular volume (MCV), which are common in this disorder.

Symptoms of Mediterranean Anemia
Individuals with thalassemia may exhibit a range of symptoms, which can vary in severity depending on the type of thalassemia (alpha or beta) and the extent of the disease. Common symptoms include:
1. Fatigue and Weakness: Due to reduced oxygen delivery to tissues.

2. Pale or Jaundiced Skin: Resulting from the breakdown of red blood cells.

3. Enlarged Spleen or Liver: This can occur due to the increased destruction of red blood cells.

4. Bone Deformities: Particularly in the face and skull, due to the expansion of bone marrow.

5. Delayed Growth and Development: In children and adolescents, thalassemia can affect growth.

Diagnosis
Diagnosis typically involves a combination of blood tests, including:
- Complete Blood Count (CBC): To assess levels of hemoglobin and red blood cells.

- Hemoglobin Electrophoresis: To identify different types of hemoglobin and confirm the diagnosis of thalassemia.

- Genetic Testing: To determine if there are mutations associated with thalassemia.

Given your son’s abnormal blood test results, it is advisable to follow up with a hematologist who can conduct further testing, including hemoglobin electrophoresis, to confirm whether he has thalassemia.

Treatment Options
Treatment for thalassemia depends on its severity. Options may include:
1. Regular Blood Transfusions: For moderate to severe cases, to maintain hemoglobin levels.

2. Iron Chelation Therapy: To prevent iron overload from frequent blood transfusions.

3. Folic Acid Supplements: To support red blood cell production.

4. Bone Marrow or Stem Cell Transplant: This is a potential cure for severe thalassemia, though it is not suitable for all patients.

5. Gene Therapy: An emerging treatment option that aims to correct the genetic defect causing thalassemia.

Impact of Gastrointestinal and Hepatic Conditions
Regarding your son’s previous abdominal pain and the noted enlargement of the liver and intestines, these could be related to his thalassemia or other underlying conditions. An enlarged liver (hepatomegaly) can occur due to increased red blood cell destruction or iron overload from blood transfusions. It is essential to monitor these conditions, as they can lead to complications such as liver dysfunction or portal hypertension.

Dietary Considerations
Your observation about your son’s reduced appetite and early satiety could be linked to several factors, including gastrointestinal issues or the effects of thalassemia itself. It is not uncommon for individuals with chronic conditions to experience changes in appetite. A consultation with a nutritionist may be beneficial to ensure he receives adequate nutrition, particularly if he has a limited diet.

Conclusion
In summary, while your son’s blood test results suggest a possibility of Mediterranean anemia, further testing is necessary for a definitive diagnosis. It is crucial to consult with a healthcare professional who specializes in hematology for appropriate evaluation and management. Early diagnosis and treatment can significantly improve quality of life and prevent complications associated with thalassemia. Additionally, addressing any gastrointestinal concerns and ensuring a balanced diet will be important for his overall health.

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