Thalassemia in Pregnancy – Types, Causes, Risks, and Treatment

Creator: Romita P
Published: 2018-01-09 12:42:38

By Romita P | Updated: 27/05/2026

Medically Reviewed By

Dr. Deepinder Kaur (Gynaecologist)

If a pregnant woman has a genetic disorder, then it is quite likely that she may pass it on to her baby. Thalassemia is one such genetic disorder that may be passed on to the baby. It is a condition that affects your haemoglobin levels, potentially leading to anaemia and other health problems. Thalassemia in pregnancy may also pose some serious complications. However, with proper care and diet, thalassaemia and pregnancy can possibly go together. In this article, we shall discuss in detail what causes this condition, how thalassaemia is diagnosed, thalassaemia testing in pregnancy, and how a woman may effectively manage your pregnancy if she has thalassaemia.

What Is Thalassemia?

Thalassemia is a genetic blood disorder that impairs the normal production of haemoglobin in the body. This malfunction may cause severe anaemia. These abnormal or deformed genes may be transferred from the parents to their children (1).

If you are pregnant, you should contact your doctor to learn more about thalassemia and pregnancy.

Types of Thalassemia

Haemoglobin in our blood comprises of matching protein chains, alpha chains and beta chains. The severity or the extent of complications associated with thalassemia varies, depending upon the number of mutated genes in these protein chains. The two main types of thalassemia are alpha and beta-thalassemia.

1. Alpha Thalassemia

Alpha thalassemia occurs when there is a gene mutation in the alpha protein chains. The alpha thalassemia trait in pregnancy usually causes no health issues for the mother besides mild anaemia.

This may happen in the following ways:

In a case where only one gene is affected or mutated: Not very substantial symptoms may be noticed.
In a case where two genes are mutated: Mild anaemia may be seen; this condition is also known as thalassemia trait.
In a case where three genes are mutated: It may lead to haemoglobin H or HbH disorder. This condition requires a regular blood transfusion to deal with the severe case of anaemia.
In a case where all four genes are mutated: This may cause a life-threatening condition called alpha thalassemia major or Hb Bart’s syndrome. Babies who are affected by this genetic disorder rarely survive pregnancy or birth.

2. Beta Thalassemia

Beta thalassemia results from a gene mutation in the beta protein chains. Beta thalassemia trait in pregnancy ranks second to iron deficiency as the most frequent cause of anaemia of pregnancy (2). According to a study, people with beta thalassaemia trait do not experience clinically significant morbidities besides mild anaemia (3).

This gene mutation may occur in the following ways:

In a case where one gene is mutated: This mutation may cause mild (thalassemia trait) as well as severe (thalassemia intermedia) cases of anaemia.
In a case where the mutation occurs in both the genes: This mutation causes a serious condition known as beta-thalassemia major or Cooley’s anaemia.

Sub Types

Alpha and Beta-thalassemia have been further categorised into two sub-categories:

1. Thalassemia Minor

When the defective genes are inherited or transferred only from a single parent, then you may have a condition called thalassemia minor. People who have this condition are called carriers of the disease. If you have this condition, you may not have any health complications, but you may pass this defective gene to your baby.

2. Thalassemia Major

When the defective genes are inherited from both parents, it may lead to a life-threatening condition called beta-thalassemia major. Thalassemia major causes serious complications in unborn babies. Most babies with alpha thalassemia major do not make it up to the pregnancy or birth. Beta thalassemia major is more common in babies and children than alpha thalassemia major.

What Causes Thalassemia in Pregnancy?

You may have thalassemia in pregnancy in the following cases:

If you inherit the defective gene from either of your parents.
If you inherit the deformed genes from both your parents.
You are more likely to inherit the defective genes if you belong to Asian, African, Middle Eastern or Mediterranean ethnicities.

Symptoms of Thalassemia in Pregnancy

A majority of the symptoms of thalassemia are linked to anaemia, including:

constant weakness
fatigue
pale skin
fainting
dizziness or lightheadedness
shortness of breath
heart palpitations
headaches

How Is Thalassemia Diagnosed During Pregnancy?

When a woman goes for a pregnancy test, and it is confirmed that she is pregnant, the doctor prescribes a series of blood tests during that first antenatal visit. These tests also include the thalassemia test. The thalassemia test will determine whether a woman has thalassemia or not during pregnancy.

The thalassemia test can be conducted even before pregnancy. If a couple is planning to start a family, they may get this test done. The couple can get this test done to know if either one of them has thalassemia.

You may not know that you are suffering from thalassemia if you have alpha or beta minor thalassemia; your blood tests will help you determine it.

How to Know If Your Unborn Baby Has Thalassemia?

Thalassemia is an inherited disease; if either you or your partner or both have thalassemia, there is a great possibility that your unborn baby may have it too.

In case a single parent is a defective gene carrier, the chances of the unborn baby getting this gene are one in two. However, if both parents are carriers of deformed genes, then the baby has the following chances of inheriting thalassemia (4):

25% chances that your baby has a severe case of thalassemia
25% chances that your baby is neither the carrier nor has any associated disease
50% chances that your baby is an asymptomatic carrier

In a case where you or your partner has thalassemia trait, the following tests may be prescribed by your doctor for prenatal diagnosis of thalassemia:

Your doctor may test your amniotic fluid after fifteen weeks of pregnancy. This test to check the amniotic fluid around your baby is known as amniocentesis.
Your doctor may take a sample of your placenta at around eleven to fourteen weeks of pregnancy. The placenta is taken for DNA testing and this test is known as chorionic villus.
Your doctor may do foetal blood sampling. This test may be done around eighteen to twenty-one weeks of pregnancy. The blood for the umbilical cord is taken for testing.

In a case where the unborn baby is diagnosed with alpha thalassemia major, there are very few chances of survival. The doctor may recommend terminating the pregnancy as the baby may not survive until delivery or birth.

How Does Thalassemia Affect Pregnancy and the Baby’s Birth?

Thalassemia traits slightly but notably raise the likelihood of hypertensive disorders and maternal anaemia. Moreover, the physiological changes that occur during pregnancy can exacerbate the severity of anaemia in pregnant women with thalassemia traits (5).

If you have thalassemia, you will be closely monitored by your midwife and doctor throughout your pregnancy. Your doctor may prescribe you folic acid as it would reduce the risk of your baby getting neural tube defects (spina bifida). The dosage may vary according to your condition.

In case you have beta-thalassemia minor, your doctor may keep a regular tab on your iron levels in the body. You may be prescribed iron tablets to replenish the body’s iron requirement in pregnancy.

In case you are an alpha thalassemia minor, you may have a mild or severe case of anaemia. You may require a blood transfusion to ward off anaemia.

If you have beta-thalassemia major, you may have severe complications in your pregnancy. You may require constant monitoring, medication and blood transfusion to sustain a healthy pregnancy.

Thalassemia may cause complications during birth. Therefore, it is recommended to go in for hospital delivery. In case you have beta-thalassemia major, which may affect your bones severely, vaginal delivery may not be possible and may require a C-section in the hospital.

There are several different haemoglobin conditions that your baby could inherit from you or your partner, inlcuding serious and non-serious ones. Ther severity of them will depend upom the types of haemoglobin genes you and your baby’s biological partner have. Thalassaemia major and sickle cell disease are among the major serious conditions (6).

Treatment for Thalassemia During Pregnancy

The treatment options for thalassemia vary according to the severity and complexity of each case. However, the following are some of the common treatment options that may be suggested to you by your doctor (7):

You may be prescribed supplements and medicines, including vitamin D supplements and folic acid (should be started at least three months before getting pregnant).
You may be advised to update your hepatitis B vaccination.
You may be advised for blood transfusion.
You may be recommended to go in for a bone marrow transplant.
You may be advised for surgery (in severe cases) to remove your gallbladder or spleen.

Will Your Baby Have Thalassemia?

Here’s how you will know if your baby will have thalassemia or not:

If you or your spouse is a thalassemia minor, There are equal chances of your baby either inheriting your defective genes or not inheriting the defective genes at all. However, your baby will not be thalassemia major in this case.
If you and your spouse both have thalassemia minor, The chances are one in four that your baby will not inherit the defective genes at all. Though your baby has the same amount of chances to be born with thalassemia major. However, the chances are one in two that your baby is born with thalassemia minor.

The above-mentioned possibilities remain the same in each case of pregnancy, of the same couple. This means no matter how many kids the couple has, the above-mentioned possibilities will apply in each case.

Tips to Remember for Thalassemia During Pregnancy

1. Don’t Miss Your Regular Blood Tests

Frequent blood tests help monitor the haemoglobin levels, iron overload, and overall maternal health during pregnancy, which helps diagnose and treat things early on.

2. Follow Your Supplement Plan Carefully

Take folic acid and prescribed medications regularly. Avoid taking iron supplements unless specifically advised by your doctor.

3. Schedule Frequent Prenatal Checkups

Women with thalassemia may need extra scans and fetal monitoring to track the baby’s growth and maternal complications.

4. Exercise Regularly

Moderate and regular exercise, such as biking, running, and walking, is super important when having thalassemia. If you have joint pains, low-impact activities like yoga, swimming, or water aerobics can help (8).

4. Consider Genetic Counselling

If both parents carry thalassemia traits, prenatal testing and genetic counselling can help assess the baby’s risk (9).

FAQs

1. Can thalassemia affect fertility?

Yes, thalassemia’s effect on pregnancy cannot be ignored. It may influence fertility in some individuals. The condition can affect hormone levels related to reproduction, which may make it harder to conceive. In some cases, associated health conditions such as diabetes or thyroid disorders can also contribute to fertility challenges.

2. What happens if a baby is born with thalassemia?

The impact of thalassemia in babies depends on how severe the condition is. Children with mild thalassemia may require little to no treatment and can live normal lives. However, babies with moderate or severe thalassemia may need ongoing care, including regular blood transfusions and treatments to manage excess iron in the body.

3. What is the life expectancy of someone with thalassemia?

Life expectancy in people with thalassemia can vary depending on the type and severity of the condition. Individuals with mild forms of thalassemia often lead a normal and healthy life. In more severe cases, especially transfusion-dependent thalassemia, regular medical care is essential. With improved treatments and monitoring, many people with severe thalassemia are now living well into adulthood and beyond.

If your pregnancy tests show that you have thalassemia, then you may have to undergo various other tests to determine the presence of this genetic disorder in your unborn child. In case it is established that your unborn baby is affected with thalassemia, your doctor may advise you to go in for genetic counselling. The counsellor will help you understand your situation and also recommend various treatment options that you may consider. The prompt and timely action will ward off any major complications that may arise because of this genetic disorder.

Also Read:

Jaundice in Pregnancy
Fibromyalgia and Pregnancy
Triple Marker Test during Pregnancy
Uterine Tachysystole during Pregnancy

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