Thalassemia and Pregnancy

Is there a link between thalassemia and pregnancy?

Thalassemia is a type of inherited blood disease that can cause anemia. It affects a person's ability to produce hemoglobin, which is the protein in red blood cells that carries oxygen to all parts of the body provides.
Approximately 100,000 babies worldwide are born with severe forms of thalassemia each year. 
However, the condition occurs more often in people of Italian, Greek, Middle Eastern, South Asian, and African descent.

The Gene thalassemia and pregnancy

Parents who mutated thalassemia genes can pass the gene to their children. A child who has one mutated gene site, is considered a carrier, also known as thalassemia trait. Most people who have thalassemia trait lead completely normal, healthy lives.

Thalassemia and pregnancy: What are the risks?

If two people with beta thalassemia trait (carriers), a baby can be one of three things happens:
The baby could receive two normal genes (one from each parent) and normal blood (1 in 4 chance)
The baby may have a normal gene from one parent and not a variant of the other parent, and thalassemia trait (2 4 chance)
The baby could receive two thalassemia genes (one from each parent) and a moderate to severe forms of the disease (1 in 4 chance).
Thalassemia and pregnancy: Genetic testing
If a woman or her husband have a family history of thalassemia, they want to consider genetic testing before becoming pregnant. 
Blood tests and family genetic studies can show whether an individual has thalassemia or is a carrier of thalassemia trait. If both parents are carriers, they can a genetic counselor for help in deciding whether to conceive or a fetus that tested positive for thalassemia to consult.

Thalassemia and pregnancy: Prenatal testing

Prenatal testing for thalassemia can be done when a woman is 11 weeks pregnent by chorionic villi sampling (CVS). CVS involves removing a small piece of the placenta, which will then be tested. Prenatal testing can also be an amniocentesis done when a woman is 16 weeks pregnant. In this procedure, a needle used to take an example of the fluid around the baby, who will then be tested.

Thalassemia and pregnancy, assisted reproductive therapy

Assisted reproductive therapy is an option for those carriers who do not want to risk giving birth to a child with thalassemia.
A new technique, pre-implantation genetic diagnosis (PGD), used in conjunction with in vitro fertilization, parents who have thalassemia trait or the bear to give birth to healthy babies. 
Embryos created in vitro for thalassemia not tested before being implanted in the mother, who only healthy embryos are selected.