Mediterranean Anemia: Causes and Symptoms Explained - Family Medicine

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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 throughout the body. This condition is particularly prevalent in individuals of Mediterranean descent, hence the name, but it can also affect people from other regions, including parts of Africa, the Middle East, and Southeast Asia.


Causes of Mediterranean Anemia
The primary cause of Thalassemia is genetic mutations that affect hemoglobin production. These mutations can be inherited from one or both parents, leading to different forms of the disease:
1. Alpha Thalassemia: This occurs when there is a defect in one or more of the four genes that produce the alpha globin subunit of hemoglobin. The severity of the condition depends on how many of these genes are affected. If all four genes are mutated, it can lead to a severe form known as Hemoglobin Bart's Hydrops Fetalis, which is usually fatal before or shortly after birth.

2. Beta Thalassemia: This results from mutations in the beta globin gene. There are two main forms: Beta Thalassemia Minor (or Trait), which usually causes mild anemia, and Beta Thalassemia Major (or Cooley's Anemia), which is more severe and requires regular blood transfusions.


Symptoms of Mediterranean Anemia
Symptoms can vary widely depending on the type and severity of Thalassemia. Common symptoms include:
- Fatigue and Weakness: Due to reduced hemoglobin levels, individuals may feel tired and weak.

- Pale or Jaundiced Skin: The breakdown of red blood cells can lead to jaundice, a yellowing of the skin and eyes.

- Enlarged Spleen and Liver: The body tries to compensate for the lack of healthy red blood cells, which can lead to an enlarged spleen (splenomegaly) and liver (hepatomegaly).

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

- Delayed Growth: Children with Thalassemia may experience delayed growth and development due to chronic anemia.

- Frequent Infections: Individuals with Thalassemia may have a compromised immune system, making them more susceptible to infections.


Diagnosis and Management
Diagnosis typically involves blood tests to measure hemoglobin levels and genetic testing to identify mutations. A complete blood count (CBC) can reveal anemia, while hemoglobin electrophoresis can help determine the type of hemoglobin present.

Management of Thalassemia depends on its severity. Mild cases may require little to no treatment, while more severe forms may necessitate:
- Regular Blood Transfusions: To maintain adequate hemoglobin levels.

- Iron Chelation Therapy: To remove excess iron from the body, which can accumulate due to frequent blood transfusions and lead to organ damage.

- Folic Acid Supplements: To help produce new red blood cells.

- Bone Marrow or Stem Cell Transplant: In some cases, this may offer a potential cure, particularly in children with severe forms of the disease.


Conclusion
Understanding Mediterranean Anemia is crucial for managing the condition effectively. If you suspect you may have Thalassemia, it is essential to consult with a healthcare provider for appropriate testing and management strategies. Early diagnosis and intervention can significantly improve the quality of life and health outcomes for individuals with this condition.