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, including the beta thalassemias, depends on 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:
People with thalassemia minor have a 50/50 chance to pass the gene to their offspring, who would also have thalassemia 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 demonstrate conclusively that a patient has iron deficiency before beginning treatment. If there is any question as to whether a patient has thalassemia, it is wise to consult a hematologist before beginning any treatment.
Thalassemia 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 thalassemia minor.
Beta thalassemia 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. The following tests help diagnose thalassemia:
All of these studies can be performed from a single blood sample. Prenatal diagnosis is determined from CVS (chorionic villus sampling) or amniocentesis.
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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 in the body).
Catherine Bollard, MD, a senior scientist in Children’s Research Institute, has been named Associate Editor of Blood, which is the journal of the American Society of Hematology (ASH).