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Fetal Risk for Thalassemia

For a woman with beta thalassemia disease or hemoglobin E/beta thalassemia disease, there may be a chance for her fetus to be at risk for inheriting thalassemia or another inherited blood disease, due to the inherited nature of these conditions. This depends on the hemoglobin type of the father of the baby. The fetus could be at risk if the father himself has thalassemia or sickle cell disease. More commonly, a risk to the fetus occurs when the father is a carrier of a beta globin trait. These traits could include beta thalassemia trait, hemoglobin E trait, sickle cell trait, or others. A genetic counselor can arrange testing for the father of the baby and explain the inheritance of hemoglobin types.

If a couple is found to be at risk for having a baby with thalassemia or another inherited blood disease, a genetic counselor can explain this risk, as well as testing options for the baby before birth. Tests are available as early as 10 weeks of pregnancy. These tests can often tell, with a high degree of accuracy, whether a baby has thalassemia. Because these tests are invasive, they are not risk-free. A genetic counselor can explain the risks and benefits associated with each of these tests. The choice to have or decline prenatal testing is a very personal one, which depends on the beliefs and values of the individual couple. A genetic counselor can help a couple identify their own issues, which might be important to the decision-making process both before and after prenatal testing.