Thalassemia: Causes, Symptoms, and Treatment

Thalassemia, also known as Cooley's anemia or Mediterranean anemia, is a genetic disorder characterized by impaired hemoglobin production due to mutations in genes responsible for globin chain synthesis. This leads to a deficiency or malfunction of globin chains, essential components of hemoglobin in red blood cells.

Symptoms

Thalassemia often remains asymptomatic during childhood but can manifest in adulthood with symptoms such as fatigue, weakness, dizziness, palpitations, and shortness of breath. These symptoms arise from the reduced or absent synthesis of globin chains caused by mutations in the hemoglobin genes.

Treatment

1. General Management: Mild cases of thalassemia may not require specific treatment. Daily rest, adequate nutrition, and avoidance of infections and injuries are recommended.
2. Pharmacological Treatment: Severe cases may be prescribed folate (folic acid) supplements to prevent hemolytic crises due to folate deficiency. Iron supplementation with medications like ferrous sulfate or iron dextran may also be necessary.
3. Surgical Intervention: Splenectomy (removal of the spleen) may be considered for patients with severe splenomegaly (enlarged spleen) and hypersplenism (overactive spleen).
4. Hematopoietic Stem Cell Transplantation: This option is suitable for patients with severe or refractory thalassemia. However, it involves high risks, significant costs, and a prolonged recovery period, necessitating careful consideration under medical guidance.

Parents are advised to seek genetic counseling promptly if concerned and to undergo pre-conception genetic counseling and prenatal diagnosis if planning a pregnancy. In families with a history of thalassemia, preventive blood transfusions may be discussed with healthcare providers. Additionally, avoiding exposure to ionizing radiation and certain chemical agents is crucial to minimize the risk of hemolysis.