Beta-thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta-thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body.
Where Beta-Thalassemia is located
Beta-thalassemia is located on the beta chain gene on the 11th chromosome. There is normally one beta chain gene on each parents' sex cell to be inherited. When there is an abnormal or missing gene on the beta chain, their child will have Beta-thalassemia.
Symptoms for Beta-thalassemia usually appear within the first few years of life. You can tell that your child has Beta-thalassemia if he/she grows very slowly, develops yellow skin and eye whites, or have an enlarged spleen, liver, and heart. Their bones may be misshapen as well. The symptoms may be so severe that they need frequent blood transfusions for their lack of red blood cells.
Hemoglobin is the oxygen carrying component of red blood cells. It is made up of two proteins, alpha and beta. If the body doesn't produce enough beta the red blood cells can't form properly and cannot carry enough oxygen. The result is Cooley's Anemia or Beta-thalassemia.
Cooley's Anemia is recessive non sex-linked trait. If you inherit one trait as a carrier, you will lead a normal life. You would need two traits to obtain it.
Regular blood transfusions, chelation therapy to decrease the amount of iron in the body, surgical removal of the spleen if necessary, daily doses of folic acid supplements, monitoring of the gallbladder, liver, and bone density, and no iron supplements. Currently, the only cure is bone marrow transplantation from a matched donor.