Q: My pediatrician said my baby might have thalassemia. What is this? Is it serious?
A: There are different types of thalassemia. The most severe of these is also known as Cooley's anemia and is a type of genetic anemia that affects the blood's ability to circulate enough oxygen through the body. Most babies with the disease are born healthy and then symptoms set in during the first year of life, including fatigue, shortness of breath, jaundice and, in some cases, facial bone deformities. Some forms of thalassemia may be identified through state newborn screening programs. Thalassemia can be a serious condition, but most children with less severe forms can stay healthy with regular treatment, which mainly includes transfusions of red blood cells as often as every two to three weeks. These blood transfusions give the child a temporary supply of healthy red blood cells to carry the oxygen he needs. Most thalassemia patients also need to undergo routine iron chelation therapy to help rid their bodies of the excess iron that builds up from all the transfusions.
Thalassemia is very rare -- there are currently only about 1,000 cases currently in the U.S. Your pediatrician may refer you to a specialist (a pediatric hematologist) to do more testing and get to the root of your baby's health problems.
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