Which gene is defective in thalassemia?

Most people affected by beta thalassemia have mutations in both copies of the HBB gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers .

How does thalassemia affect pregnancy?

Pregnant women with beta thalassemia can develop anemia, which can raise the chances of delivering early. You also may need more frequent blood transfusions during pregnancy for your health and the health of your baby.

How is thalassemia diagnosed in pregnancy?

How is thalassemia diagnosed in your baby?

1. Chorionic villus sampling (also called CVS). This test checks tissue from the placenta to see if your baby has a genetic condition.
2. Amniocentesis (also called amnio). This test takes some amniotic fluid from around your baby in the uterus.

How do I know if I have thalassemia carrier?

You can find out if you’re a carrier of thalassaemia by having a simple blood test. The NHS Sickle Cell and Thalassaemia Screening Programme also has detailed leaflets about being a beta thalassaemia carrier or a delta beta thalassaemia carrier.

Can 2 people with thalassemia have a baby?

If two people who are carriers of the same type of thalassaemia have children, their children have a: 25 per cent risk of developing thalassaemia major because they inherited the thalassaemia gene from both parents.

How is thalassemia treated in pregnancy?

Intrauterine Transfusion (IUT) for Fetuses with ATM The goal of this treatment is to provide the fetus with functional red blood cells that can successfully deliver oxygen. Fetuses can be treated with intrauterine transfusions throughout pregnancy starting at an early gestational age (18-25 weeks).

Who is most likely to thalassemia?

People who have family members from certain parts of the world have a higher risk for having thalassemia. Traits for thalassemia are more common in people from Mediterranean countries, like Greece and Turkey, and in people from Asia, Africa, and the Middle East.

Can thalassemia carriers take iron?

Thalassemia trait will not impair your work, diet or exercise. Trait carriers should not take iron supplements unless a special blood test (serum iron or serum ferritin) shows that you are iron deficient. Carriers can give blood providing they are not anemic (do not have a lower hemoglobin than usual).