Pathophysiology: Thalassemia is an inherited blood disorder. It affects how hemoglobin is made. Beta thalassemia or Cooley’s anemia is caused by mutations in the beta chain of the hemoglobin molecule. There is one beta chain gene on each 11th chromosome, for a total of two. How these genes are altered determines the specific type of beta thalassemia in a child. This form of thalassemia is usually so severe that it requires regular blood transfusions. The symptoms of Cooley’s anemia generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Children born with Cooley’s anemia are normal at birth, but develop severe anemia during the first year of life. Other symptoms include: fussiness, paleness, frequent infections, poor appetite, failure to thrive, jaundice (yellowing of the skin and whites of the eyes) and enlarged organs.
Disease Treatment: Cooley’s anemia is most often found in people who are of Mediterranean ancestry (Greek or Italian). Each child of two carrier parents is at 25 percent risk for the disease. A doctor who is trying to diagnose thalassemia will typically take a blood sample. It will be tested for anemia and for abnormal hemoglobin. A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin. Red blood cells will appear small and abnormally shaped when looked at under a microscope and a complete blood count (CBC) reveals anemia. Treatment for Cooley’s anemia major often involves regular blood transfusions and folate supplements. Specific treatment for Cooley's anemia will be determined by your child's doctor based on the child's age, overall health and medical history, child's tolerance for specific medications, procedures, or therapies. Treatment for beta thalassemia may include Regular blood transfusions, Medications, Surgical removal of the spleen, Daily doses of folic acid supplements, No iron supplements and Bone marrow transplantation from a matched donor is the only cure currently available for Cooley’s anemia.
Major Research: Clinical researchers working in avoiding spleen removal for Cooley's anemia sufferers, to find potential of Hepcidin hormone for anemic blood disorders, Finding different Gene therapy alternative to current cures for blood disorder β-thalassemia etc.
Disease Statistics: Cooley’s anemia effects approximately 1 in 272,000 or 0.00% or 1,000 people. In Switzerland 27 from 7,450,867 people were affected from Cooley’s anemia.