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Birth defects

  • Birth defects are health conditions present at birth.
  • They can cause problems in how the body works.
  • About 120,000 babies born each year have a birth defect.
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Thalassemia is a blood disorder that affects the way the body makes hemoglobin. Hemoglobin is the part of red blood cells that carries oxygen to the rest of the body. A person with thalassemia has fewer healthy red blood cells than normal. This can lead to anemia, a condition that happens when you don’t have enough healthy red blood cells or your red blood cells are too small. 

Both boys and girls can have thalassemia. It’s most common in people who are Italian, Greek, Middle Eastern, Asian or African. 

Many people with thalassemia lead healthy lives. But for some people, thalassemia may cause serious health conditions that need treatment. In severe cases, it may cause death. About 100,000 babies worldwide are born with severe thalassemia. 

What causes thalassemia?

Thalassemia is inherited. This means it’s passed from parent to child through genes. A gene is part of the body’s cells that stores instructions for the way your body grows and works. Genes come in pairs—you get one of each pair from each parent. If you or someone in your family has or had thalassemia, it means you have a family history of thalassemia. 

Sometimes the instructions in genes change. This is called a gene change or a mutation. Parents can pass gene changes to their children. Sometimes a gene change can cause a gene to not work correctly. Sometimes it can cause birth defects or other health conditions. 

Thalassemia happens when the body has trouble making proteins called alpha globin and beta globin; these proteins make hemoglobin. In thalassemia, a gene that makes these proteins is missing or changed. Your baby has to inherit a gene change for thalassemia to have the condition. 

If you have thalassemia or a family history of thalassemia, talk to a genetic counselor. This is a person who is trained to help you understand about how genes, birth defects and other medical conditions run in families, and how they can affect your health and your baby’s health.

How do you know if your baby has thalassemia?

If you have thalassemia or have a family history of thalassemia, you may want to have prenatal tests before your baby is born to see if he has the condition. Talk to your health care provider about having these tests:

  • Chorionic villus sampling (also called CVS). This test checks tissue from the placenta to see if your baby has a genetic condition. You can get CVS at 10 to 12 weeks of pregnancy.
  • Amniocentesis (also called amnio). This test takes some amniotic fluid from around your baby in the uterus. The test checks for birth defects and genetic conditions in your baby. You can get this test at 15 to 20 weeks of pregnancy.

Some people with thalassemia don’t have any symptoms. Others may have signs and symptoms of thalassemia or anemia early in childhood. Signs and symptoms of thalassemia include:

  • Tiredness, weakness or being short of breath
  • Pale or yellow skin
  • Deformed bones in the face
  • Slow growth
  • Dark urine

If your baby has signs and symptoms of thalassemia after birth, your baby’s health care provider can give your baby a blood test to check for the condition. The blood test checks your baby’s red blood cells for size, color and shape. These things can help your provider know what kind of thalassemia your baby may have.   

What health conditions can thalassemia cause?

When thalassemia is severe, it can lead to serious health complications, including: 

  • Too much iron in the blood. This can cause problems with your child’s heart, liver and other organs. 
  • Bone problems. Thalassemia can cause bone marrow to expand (get bigger). Bone marrow is the sponge-like material inside bones that makes blood cells. When bone marrow expands, the bones become wider. They may become fragile and break more easily.
  • A large spleen. The spleen gets rid of damaged blood cells and helps the body fight infection. If your child has thalassemia, the spleen works harder to do its job. This causes the spleen to grow bigger and can make anemia worse. The spleen may need to be removed if it grows too big.
  • Infection. People with thalassemia are more likely than others to get infections, especially if their spleen has been removed.
  • Slow growth. Children with anemia may grow slowly and have late puberty. Puberty is the time in life (usually between age 8 and 15) when a person’s body changes from being a child to an adult. 
  • Heart problems. Serious forms of thalassemia can cause heart problems, including heart failure.

How is thalassemia treated? 

Treatment for thalassemia depends on how serious the condition is. If your child has a mild form of thalassemia or mild anemia, she may not need treatment. If her condition is more serious, she may need medical treatment, including: 

  • Blood transfusions. This is when your child has new blood put into her body. Blood transfusions give people with thalassemia healthy red blood cells. People with serious forms of thalassemia may need blood transfusions as often as every 2 to 4 weeks.
  • Iron chelation therapy. Both thalassemia and regular blood transfusions can cause too much iron to build up in the blood. Children and adults who have regular blood transfusions need medicine to help them get rid of the extra iron. This is called iron chelation therapy. Your child may get this medicine in a pill (Deferasirox, also called Exjade®, or Deferiprone, also called Ferriprox®) or through a needle placed under the skin (Desferoxamine, also called Desferal®). 
  • Folic acid supplements. A supplement is a product you take to make up for certain nutrients that you don’t get enough of in the foods you eat. Some people with thalassemia take folic acid supplements to help treat anemia. Folic acid is a B vitamin that every cell in the body needs for healthy growth and development.
  • Bone marrow transplant. This is a kind of stem cell transplant. Stem cells can grow into specific kinds of cells in the body. They may be used to treat some diseases, like some forms of cancer and anemia. They’re found in bone marrow and umbilical cord blood. In a bone marrow transplant, your child gets new stem cells that may grow to make healthy, new cells. It’s a risky procedure and only used in the most severe cases. It works best when the bone marrow donor is an exact genetic match to your child, like an identical twin.

Are there different kinds of thalassemia?

Yes. There are two main types of thalassemia, and each has different forms. The two main types are:

  1. Alpha thalassemia. This is when the body has trouble making alpha globin. Four genes help the body make alpha globin. Your child gets two of these genes from each parent. The form of alpha thalassemia depends on which gene is missing or has a gene change. 
  2. Beta thalassemia. This is when the body has trouble making beta globin. There are two genes that help the body make beta globin. Your child gets one from each of parent. The form of beta thalassemia depends on the type of gene change. 

The forms of alpha thalassemia are:

  • Carrier. This is caused by one missing gene or gene change for alpha thalassemia. When this happens, your baby is a carrier. Carriers usually don’t have symptoms, but they can pass the condition to their children. 
  • Alpha thalassemia minor, also called alpha thalassemia trait. This condition is caused by two missing genes or gene changes. Your child may not have symptoms or may have mild anemia, which can make him feel tired. 
  • Hemoglobin H disease. This is caused by three missing genes or gene changes. Your child may have anemia or develop more serious complications. 
  • Alpha thalassemia major, also called hydrops fetalis. This is caused by four missing genes or gene changes. It’s the most serious form of alpha thalassemia. It can lead to stillbirth or the death of a baby shortly after birth. 

The forms of beta thalassemia are:

  • Beta thalassemia minor, also called beta thalassemia trait. This condition is caused by one gene change. Most people with this form have no symptoms, or they may have mild anemia. They can pass the gene change on to their children. 
  • Beta thalassemia intermedia. This condition is caused by two gene changes. It generally causes mild anemia.
  • Beta thalassemia major, also called Cooley’s anemia. This is the most serious form of beta thalassemia. It’s caused by two gene changes. Most children with thalassemia major seem healthy at birth but develop severe anemia during the first few years of life. Without treatment, they can develop liver, bone and heart problems. 

Sometimes, a gene change for beta thalassemia can happen along with a gene change for sickle cell anemia. This condition is called sickle beta thalassemia or S beta thalassemia. Your baby gets checked for S beta thalassemia in newborn screening. Newborn screening checks for serious but rare and mostly treatable conditions at birth. It includes blood, hearing and heart screening. 

Last reviewed November 2014

Call your provider now if your baby

  • Has a temperature above 100.4º F
  • Has trouble breathing or is hard to waken
  • Has blood in her vomit or stool
  • Has yellowish skin or eyes
  • Is having a seizure

Frequently Asked Questions

Can dad's exposure to chemicals harm his future kids?

Dad's exposure to harmful chemicals and substances before conception or during his partner's pregnancy can affect his children. Harmful exposures can include drugs (prescription, over-the-counter and illegal drugs), alcohol, cigarettes, cigarette smoke, chemotherapy and radiation. They also include exposure to lead, mercury and pesticides.

Unlike mom's exposures, dad's exposures do not appear to cause birth defects. They can, however, damage a man's sperm quality, causing fertility problems and miscarriage. Some exposures may cause genetic changes in sperm that may increase the risk of childhood cancer. Cancer treatments, like chemotherapy and radiation, can seriously alter sperm, at least for a few months post treatment. Some men choose to bank their sperm to preserve its integrity before they receive treatment. If you have a question about a specific exposure, contact the Organization of Teratology Information Specialists at

Can Rh factor affect my baby?

The Rh factor may be a problem if mom is Rh-negative but dad is Rh-positive. If dad is Rh-negative, there is no risk.

If your baby gets her Rh-positive factor from dad, your body may believe that your baby's red blood cells are foreign elements attacking you. Your body may make antibodies to fight them. This is called sensitization.

If you're Rh-negative, you can get shots of Rh immune globulin (RhIg) to stop your body from attacking your baby. It's best to get these shots at 28 weeks of pregnancy and again within 72 hours of giving birth if a blood test shows that your baby is Rh-positive. You won't need anymore shots after giving birth if your baby is Rh-negative. You should also get a shot after certain pregnancy exams like an amniocentesis, a chorionic villus sampling or an external cephalic version (when your provider tries to turn a breech-position baby head down before labor). You'll also want to get the shot if you have a miscarriage, an ectopic pregnancy or suffer abdominal trauma.

Does cleft lip or cleft palate cause dental problems?

A cleft lip or cleft palate that extends into the upper gums (where top teeth develop) can cause your baby to have certain dental problems, including:

  • Missing teeth
  • Too many teeth
  • Oddly shaped teeth
  • Teeth that are out of position around the cleft

Every baby with a cleft lip or palate should get regular dental checkups by a dentist with experience taking care of children with oral clefts. Dental problems caused by cleft lip or palate usually can be fixed. If needed, your baby can get ongoing care by a team of experts, including:

  • A dentist
  • An orthodontist to move teeth using braces
  • An oral surgeon to reposition parts of the upper jaw, if needed, and to fix the cleft

See also: Cleft lip and cleft palate


Does cleft lip or cleft palate cause ear problems?

Cleft lip does not cause ear problems.

Babies with cleft palate, however, are more likely than other babies to have ear infections and, in some cases, hearing loss. This is because cleft palate can cause fluid to build up in your baby’s middle ear. The fluid can become infected and cause fever and earache. If fluid keeps building up with or without infection, it can cause mild to moderate hearing loss.

Without treatment , hearing loss can affect your baby’s language development and may become permanent.

With the right care, this kind of hearing loss is usually temporary. Your baby’s provider may recommend:

  • Having your baby’s ears checked regularly for fluid buildup
  • Medicines for treating fluid buildup and ear infections
  • Ear tubes if your baby has fluid in his ears over and over again. Ear tubes are tiny tubes that are inserted into the eardrum to drain the fluid and help prevent infections.

See also: Cleft lip and cleft palate

Does cleft lip or cleft palate cause problems with breastfeeding?

Babies with only a cleft lip usually don’t have trouble breastfeeding. Most of the time, they can breastfeed just fine. But they may need some extra time to get started.

Babies with cleft lip and palate or with isolated cleft palate can have:

  • Trouble sucking strong enough to draw milk through a nipple
  • Problems with gagging or choking
  • Problems with milk coming through the nose while feeding

Most babies with cleft palate can’t feed from the breast. If your baby has cleft palate, he can still get the health benefits of breastfeeding if you feed him breast milk from a bottle. Your provider can show you how to express (pump) milk from your breasts and store breast milk.

Your baby’s provider can help you start good breastfeeding habits right after your baby is born. She may recommend:

  • Special nipples and bottles that can make feeding breast milk from a bottle easier
  • An obturator. This is a small plastic plate that fits into the roof of your baby’s mouth and covers the cleft opening during feeding.

See also: Cleft lip and cleft palate, Breastfeeding

Does cleft lip or cleft palate cause speech problems?

Children with cleft lip generally have normal speech. Children with cleft lip and palate or isolated cleft palate may:

  • Develop speech more slowly
  • Have a nasal sound when speaking
  • Have trouble making certain sounds

Most children can develop normal speech after having cleft palate repair. However, some children may need speech therapy to help develop normal speech.

See also: Cleft lip and cleft palate

What are choroid plexus cysts?

The choroid plexus is the area of the brain that produces the fluid that surrounds the brain and spinal cord. This is not an area of the brain that involves learning or thinking. Occasionally, one or more cysts can form in the choroid plexus. These cysts are made of blood vessels and tissue. They do not cause intellectual disabilities or learning problems. Using ultrasound, a health care provider can see these cysts in about 1 in 120 pregnancies at 15 to 20 weeks gestation. Most disappear during pregnancy or within several months after birth and are no risk to the baby. They aren't a problem by themselves. But if screening tests show other signs of risk, they may indicate a possible genetic defect. In this case, testing with higher-level ultrasound and/or amniocentesis may be recommended to confirm or rule out serious problems.

What if I didn't take folic acid before pregnancy?

If you didn’t take folic acid before getting pregnant, it doesn't necessarily mean that your baby will be born with birth defects. If women of childbearing age take 400 micrograms of folic acid every day before and during early pregnancy, it may help reduce their baby’s risk for birth defects of the brain and spin called neural tube defects (NTDs). But it only works if you take it before getting pregnant and during the first few weeks of pregnancy, often before you may even know you’re pregnant.

Because nearly half of all pregnancies in the United States are unplanned, it's important that all women of childbearing age (even if they're not trying to get pregnant) get at least 400 micrograms of folic acid every day. Take a multivitamin with folic acid before pregnancy. During pregnancy, switch to a prenatal vitamin, which should have 600 micrograms of folic acid.

Last reviewed November 2012

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