Mutations in the beta globin gene can lead to thalassemia or sickle-cell anemia. Thalassemia and sickle-cell anemia are quite common, not only in Mediterranean, but also in African, African-American, and Asian populations; however, specific sets of mutations are associated with different ethnic groups. It has been estimated that approximately seven percent of the world population are carriers of such disorders, and that 300,000-400,000 babies with severe forms of these diseases are born each year.
Beta-thalassemia, one of the most common of the congenital anemias, is due to partial or complete lack of synthesis of beta-globin chains. Cooley's anemia, also known as beta-thalassemia major, the most severe form of this disease, is characterized by ineffective erythropoiesis (IE) and extra medullary hematopoiesis (EMH), requiring regular transfusions to sustain life. In beta-thalassemia intermedia, where a greater number of beta-globin chains are synthesized, the clinical picture is milder, and patients do not require frequent transfusions. However, hemoglobin (Hb) levels often decrease over time, splenomegaly appears, and progressive iron overload occurs from increased gastrointestinal iron absorption.
Despite its prevalence, Cooley's anemia (beta-thalassemia) is an orphan disease, of which studies are rare and not well-funded. Current disease management includes prenatal diagnosis, transfusion therapy, iron chelation and allogeneic bone marrow transplantation (BMT). The hallmark of the disease is ineffective erythropoiesis (IE), which leads to erythroid marrow expansion to as much as 30 times the normal level. Extra-medullary erythropoietic tissues, primarily in the thorax and the paraspinal regions, can be stimulated to expand, leading to the characteristic deformities of the sk
|Contact: Andrew Klein|
New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College