Thalassemia

Thalassemia: Causes, Symptoms, and Management

What is Thalassemia? Thalassemia is a group of inherited blood disorders characterized by reduced hemoglobin production, leading to anemia and other health issues. There are two main types: alpha and beta thalassemia.

Genetic Basis: Thalassemia is inherited in an autosomal recessive manner. Mutations in the HBA1, HBA2 (for alpha thalassemia), or HBB (for beta thalassemia) genes cause this disorder.

Symptoms: Symptoms vary depending on the type and severity, ranging from mild anemia to severe forms requiring regular blood transfusions. Symptoms include fatigue, weakness, pale or yellowish skin, facial bone deformities, and slow growth.

Diagnosis and Treatment: Blood tests, genetic testing, and prenatal screening can diagnose thalassemia. Treatment options include regular blood transfusions, iron chelation therapy, and bone marrow transplants. Gene therapy is an emerging treatment.

Management and Care: Managing thalassemia involves regular medical check-ups, maintaining a healthy diet, avoiding infections, and staying informed about the latest treatment options.