A genetic disorder characterized by the inability of the body to produce hemoglobin. A person with must have blood transfusions. The disease can be detected by a simple blood test; but the positive diagnosis requires hemoglobin electrophoresis testing: Cooley’s anemia trait.
An inherited disease in which there is abnormal production of part of the hemoglobin molecule, resulting in the production of abnormal hemoglobin. Cooley anemia is also known as beta-thalassemia major, because it affects both genes that code for the beta chain of hemoglobin. If the defective gene is inherited from only one parent, the anemia is mild and often symptom-free, and the person can live a normal, full life (thalassemia minor). If both parents contribute the gene, however, the disease is severe (thalassemia major;). As a result of this molecular abnormality, the body produces too few red bloods cells, which have an unusually short survival time and do not have enough normal hemoglobin to transport oxygen effectively.
The most severe form of beta-thalassemia, known as Cooley’s anemia, bears its name in honor of Thomas Benton Cooley (1871–1945), an American pediatrician who initially documented this condition in the offspring of Italian immigrants.