Thalassemia and Pregnancy

What is Thalassemia?

Thalassemia is an inherited blood disorder that affects the body’s ability to produce normal hemoglobin. Individuals with thalassemia produce fewer healthy hemoglobin proteins, and the bone marrow produces fewer healthy blood cells.

Hemoglobin is the pigment that helps in transporting oxygen around the body. An individual not having an adequate number or fewer red blood cells is referred to as anemia. A combination of thalassemia and anemia could deprive the individual of the much-needed oxygen needed for energy and to thrive. Thalassemia can lead to anemia, which can be mild or severe. It can lead to other complications like iron overload. Anemia can lead to fatigue, dizziness, paleness, etc.

What causes thalassemia?

Two alpha globin chains and two beta globin chains are among the four protein chains found in hemoglobin. Each of these chains contains genetic information from the parents of the individual. If any of these genes are defective or missing, the individual will have thalassemia. The type of thalassemia present in the individual will depend on the chain where the defect is. The extent of the defect will also determine how severe the thalassemia will be.

Who is at risk of thalassemia?

The factors that can increase the risk of thalassemia are:

• Ancestry – the condition occurs most often in areas where malaria is prevalent like the people of Africa, South America, Asia, etc.
• Family history of thalassemia – thalassemia can be passed down from parents to children through mutated hemoglobin genes.

What are the types of thalassemia that exist?

The condition can be classified as minor, intermediate, and major to describe how severe the condition can be. Thalassemia major is the most severe form and requires regular treatment. The alpha and beta subtypes of thalassemia are named for the flaws in these chains.

Alpha-thalassemia

There are four genes involved in making the alpha hemoglobin chain. An individual gets two from each parent. If that individual inherits:

• One mutated gene – They will have no signs or symptoms of thalassemia. But the individual is a carrier and can pass it down to their children.
• Two mutated genes – The signs and symptoms are mild, and the condition may be referred to as alpha-thalassemia trait.
• Three mutated genes – The signs and symptoms are moderate but they can also be severe.

It is rare for an individual to inherit four mutated genes and this usually results in a stillbirth. Babies that are born with this condition either die shortly after birth or require lifelong transfusion therapy. In also very rare cases, the babies can undergo stem-cell transplants and transfusions in order to treat the condition.

Beta-thalassemia

Two genes are involved in making a beta hemoglobin chain; an individual inherits one from each parent. If the individual inherits:

• One mutated gene – The individual will have mild signs and symptoms. This condition can be referred to as thalassemia minor.
• Two mutated genes – The signs and symptoms will be moderate to severe. This condition is referred to as thalassemia major or Cooley anemia. Babies born with two defective beta hemoglobin genes are usually healthy at birth but develop the signs and symptoms within their first two years of life.

Beta-thalassemia is much more common than alpha-thalassemia. Many individuals with the condition have no symptoms and will not know that they carry it unless they get a blood test.

Can an individual that has thalassemia get pregnant?

Women with beta-thalassemia can get pregnant, but they will need special medications that can help in their ovulation to get pregnant. The majority of health issues caused by beta-thalassemia have to do with too much iron in the body. The iron buildup is usually because of the disease and frequent blood transfusion is needed to treat it. This iron buildup causes issues in the individual’s organs. As a woman, it can affect parts of the body like the pituitary gland and hypothalamus that are in charge of the hormones and have an impact on the woman’s ability to ovulate and menstruate.

Thalassemia and pregnancy: Will the baby inherit the condition?

Beta-thalassemia is a genetic condition. This implies that parents can genetically transmit it to their offspring. If both of the parents are carriers for beta-thalassemia, there is a 25% chance that the baby will have the condition, a 25% chance that the baby will not have the disease, and a 50% chance that the baby will be a carrier.

How does thalassemia affect pregnancy?

Pregnancies with beta-thalassemia are considered high risk by doctors because the disease raises the chances of health problems for the pregnant woman and the baby. Some of the problems that may be encountered include:

• Heart problems – The body requires more blood during pregnancy and this extra blood makes the heart work harder. Pregnant women with thalassemia can develop anemia which can put them at risk of early delivery. The woman may also need frequent blood transfusions for the health benefit of them and the baby.
• Infections – Pregnancy and thalassemia can make the woman more likely to get sick. The woman is given optimum care before during and after the pregnancy to prevent this
• Diabetes – The stress of pregnancy can make already present diabetes worse. Doctors monitor the woman and are focused on controlling their blood sugar during pregnancy.
• Liver issues – The condition can cause damage to the liver and other organs, and the added stress of pregnancy can cause strain on the liver. The doctor will usually test the efficiency of the liver before the woman gets pregnant and will closely monitor it during the pregnancy.

Experts recommend that pregnant women with the condition see their doctor every month at least during their first two trimesters and every other week in the third trimester. Women with thalassemia major or intermedia will be advised to give birth in the hospital’s obstetric-led maternity unit where the mother and the baby are closely monitored. Women with less serious types of thalassemia can usually plan for a straightforward birth.