Family studies and, if warranted, DNA analysis can be used to make a definitive diagnosis. Children who are diagnosed with Thalassemia Intermedia have a homozygous or heterozygous beta globin mutation that causes a decrease in beta chain production, but not to the degree that chronic transfusion therapy is required. Children who have thalassemia intermedia can also have delayed pubescence, exercise intolerance, leg ulcers, inflammatory arthritis and extramedullary hematopoiesis causing spinal cord compression, a medical emergency requiring radiation therapy and transfusion. They can also have iron overload due to increased absorption of iron from the gastrointestinal tract and intermittent transfusion. They are at risk for the cardiac and endocrine complications of hemosiderosis, but usually at an older age than chronically transfused children.
Chelation therapy is indicated for increasing ferritin and elevated liver iron.
Frequently, adolescents and adults are unable to tolerate the degree of anemia that is seen in thalassemia intermedia. Hypersplenism , splenic pain, congestive heart failure secondary to anemia, severe exercise intolerance, thrombocytopenia and leukopenia should be considered indications for beginning transfusion therapy or for splenectomy in the child who has severe hemolytic anemia. Beta thalassemia major was first described by a Detroit pediatrician, Thomas Cooley, in 1925. The clinical picture he described is prevalent today in countries without the necessary resources to provide patients with chronic transfusions and desferoxamine therapy. The result is a very hypermetabolic bone marrow with thrombocytosis , leukocytosis and microcytic anemia in the young child prior to the enlargement of their spleen.