Is it Mediterranean Anemia?

Thalassemia: An Inherited Hemolytic Disorder

Thalassemia is an inherited hemolytic disorder primarily caused by mutations in globin genes, resulting in a reduction or complete absence of globin within red blood cells. Patients typically exhibit symptoms such as chronic progressive hemolysis and splenomegaly.

1. Symptoms

The clinical manifestations of thalassemia vary widely among patients, often manifesting as a chronic progressive process. Common symptoms include fatigue, dizziness, and other discomforts. In severe cases, jaundice and hepatosplenomegaly may occur.

2. Physical Examination and Diagnostic Tests

Doctors conduct a comprehensive physical examination and combine laboratory test results to diagnose the disease. Common auxiliary diagnostic tests include peripheral blood smear counts, bone marrow aspiration and biopsy, thalassemia screening tests, and molecular biology techniques. Among these, peripheral blood smear counts serve as an initial screening method, where abnormalities in the size and morphology of red blood cells under a microscope can indicate the possibility of thalassemia.

3. Treatment

Currently, there is no cure for thalassemia, but normal growth and development can be maintained through transfusion of packed red blood cells. For children with severe β-thalassemia, hematopoietic stem cell transplantation may be considered. Additionally, medication can be used to slow the progression of the disease, such as folic acid and vitamin B6, which nourish nerves and alleviate anemia symptoms. If you suspect you have thalassemia, seek medical attention promptly for professional diagnosis and treatment.

In daily life, maintain good habits, avoid excessive fatigue, rest adequately, and enhance dietary management by consuming iron-rich foods like animal liver and spinach.