Thalassemia is a hereditary blood disorder characterized by reduced or absent hemoglobin production. It is caused by mutations in either the alpha or beta globin genes and results in ineffective erythropoiesis and hemolytic anemia. The most common forms are thalassemia major, intermedia, and minor. Thalassemia major requires regular blood transfusions and chelation therapy to manage iron overload, while thalassemia intermedia and minor are generally milder forms. Testing includes complete blood count, blood smear, and hemoglobin electrophoresis to determine the type of thalassemia present. Management involves blood transfusions, chelation therapy, and in some cases splenectomy.