What Is Carrier Screening for Thalassemia?

The inherited blood disease thalassemia can be deadly for those with a severe form of the disorder, as well as cause stillbirth or miscarriage of affected fetuses. The disease causes a malformation of components of the alpha and beta globulin units of hemoglobin.

Inheritance

• Thalassemia is inherited from one or both parents. The most severe forms of the disease occur when more than one copy of a defective gene is passed down to the child.

Carriers

• Some individuals are carriers of thalassemia, showing no symptoms but having a copy of the gene that can be passed to offspring.

Family Studies

• Family studies look at the medical history and blood tests of family members of potentially afflicted individuals and try to determine the likelihood that someone is a carrier.

DNA Tests

• DNA tests can be done that look for specific known genes for thalassemia and determine whether an individual who is asymptomatic is carrying one or more of those genes.

Results

• Individuals who are deemed to be carriers or likely carriers of thalassemia can speak with a genetic counselor to determine their likelihood of passing on the gene to any offspring. Individuals who are found to be carriers may also choose to have prenatal tests done to determine if the unborn child has the disease.