Thalassemia prenatal diagnosis generally the same as in normal pregnancy. The difference in blood transfusion should be done. Thalassemia is a genetic disease is an autosomal recessive inherited according to Mendel’s laws from parents to their children. Thalassemia diseases include a disease state of the mildest clinical gelaja (heterozygous form) the so-called thalassemia minor or thalassemia trait (carrier = carrier of the trait) to the most severe (homozygous form) called thalassemia major. Heterozygous form derived by one of the parents who have a disease thalassemia, while the homozygous form is derived by both parents who have a disease thalassemia.

How is thalassemia carrier?

Thalasemia carrier

If only one of the parents who carry thalassemia trait, then 50% likelihood of children born will be carriers of thalassemia and 50% chance of a child born to normal. No one will be born suffering from thalassemia.

When both parents carriers of thalassemia, there are several possibilities. The first possibility, the child suffered from thalassemia (25%). The second possibility, the child will only be carriers of thalassemia (50%). Last possibility, the child will be born normal (25%).

Diagnosis of Thalassemia in Pregnancy

The importance of premarital screening examination.

From the above it is extremely important premarital screening done to determine the “status” of the actual health of the couples getting married, to detect and prevent inherited diseases (genetic) diseases such as thalassemia, sickle cell anemia (anemia sickle sets), and disease Tay-Sachs. Fertility disorders also can be known.

If you or your husband has thalassemia and you are planning a family or are already expecting a baby, the other parent will need to have a blood test so the risk can be assessed. Prenatal diagnosis through several stages. The first stage is the maternal fetal examination including examination of a complete blood count and hemoglobin analysis. When the mother expressed a carrier of beta thalassemia trait then proceed to the second stage examination of the husband is checked complete blood count and hemoglobin analysis. When her husband also brought thalassemia trait, then the husband and wife are examined DNA to determine the type of disorder in the beta globin gene.

Furthermore, fetal tissue is taken (choriales villi or placenta tissue) at 10-12 weeks-old fetus to be examined DNA. When the fetus was carrying only one beta thalassemia gene split, then the pregnancy can be continued safely. But if the fetus was bringing both thalassemia gene which means that the fetus will suffer from beta thalassemia, the termination of pregnancy may be an option.

Decision fetal tissue from the placenta made by sticking a needle through the birth canal or the abdominal wall into the tool and through the womb to the placenta, then the area of ??the placenta called villi choriales taken by the aspirations of a number of such networks for DNA examination materials. This procedure is performed by a gynecologist who is experienced doing this action. This procedure is performed at 11 weeks gestation. This action has a risk of miscarriage by 2-3%. Another way to obtain fetal cells from amniotic fluid is by making a new one can be performed at 15 weeks gestation. The risk of abortion in this procedure is 1%.

Unfortunately, you cannot do anything to reduce the risk of passing thalassemia to your baby. However, if you have a milder form of thalassemia, there is a very good chance that you will have a healthy pregnancy. If you have thalassemia minor you might be more prone to iron deficiency (anemia) during pregnancy. However, beta thalassemia can affect blood test results during pregnancy, causing them to indicate that your iron stores are low when they are not. As a result, if you have beta thalassemia, you should have additional blood tests to confirm that you are iron-deficient before you take iron tablets. If you do become anemic, you will need to take iron supplements.

Thalassemia and Pregnancy Treatment

• Routine examination. The difference with normal pregnancy, thalassemia patients have a blood transfusion and monitoring of the oxygen supply to the fetus.
• Monitoring the health of mother and fetus. There are several important tests to monitor the health condition of mother and fetus, the screening test (screening) to determine the likelihood the fetus had inherited the disease thalassemia, as well as regular counseling and diagnosis.
• Consumption of vitamins and supplements as recommended by doctors to prevent a deficiency of vitamins and supplements needed during pregnancy.
• Keep your emotions. In addition to the physical, emotional state of pregnant women are prone to flare. Stress and depression can lead to heart, liver and hormone systems work more actively so that it can worsen the health of pregnant women.
• With proper treatment and therapy, expected levels of iron in the blood of pregnant women can be maintained, and the baby can be born healthy and normal.