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Thalassemia is an inherited disorder that affects the production of normal hemoglobin (a type of protein in red blood cells that carries oxygen to the tissues of the body). Thalassemia includes a number of different forms of anemia. The severity and type of anemia depends upon the number of genes that are affected.
Beta thalassemia is caused by mutations in the beta chain of the hemoglobin molecule. There is one beta chain gene on each #11 chromosome, for a total of two. How these genes are altered determines the specific type of beta thalassemia in a child:
Persons with thal minor have a 50/50 chance to pass the gene to their offspring, who would also have thal minor. Many people are given iron replacement under the mistaken belief that their anemia is the iron-deficient type. Since too much iron can be harmful, it is important to consult a hematologist regarding any treatment.
Thal major is inherited by an autosomal recessive gene, which means that two copies of the gene are necessary to produce the condition, one inherited from each of two carrier parents who have thal minor.
Beta thalassemia is most often found in persons who are of Mediterranean ancestry (Greek or Italian). Each child of two carrier parents is at 25 percent risk for the disease. Carrier status can be determined by the following:
All of these studies can be performed from a single blood sample. Prenatal diagnosis is determined from CVS (chorionic villus sampling) or amniocentesis.
Specific treatment for beta thalassemia major or Cooley's anemia will be determined by your child's physician based on the following:
Treatment for beta thalassemia may include:
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