What Is Thalassemia? Causes, Symptoms, and Treatments

Thalassemia is a health condition of the blood that you can pass on to your child. It causes your body to produce abnormal hemoglobin. This hemoglobin can’t carry oxygen to your tissues very well. If your hemoglobin becomes too abnormal, your red blood cells (RBCs) may be affected. This can lead to symptoms of anemia or low hemoglobin in the blood. Learn more about thalassemia and how you can manage it below.

Causes of Thalassemia

Most people know if they or their child have thalassemia because another family member has it, too. It’s passed on directly from parents to children through inheriting gene mutations. These genes are responsible for making certain parts of hemoglobin. Hemoglobin is a protein found in red blood cells that carries oxygen to different body parts. It is made of structures called alpha and beta chains. You get thalassemia if you inherit a mutation in one or more of the genes that produce the alpha and beta chains.

There are two major types of thalassemia. If you have mutations in the genes that make the alpha chains of hemoglobin, you have alpha thalassemia. If you have mutations in the genes that make beta chains of hemoglobin, you have beta-thalassemia.

Alpha Thalassemia

There are four genes responsible for making the alpha chains of your hemoglobin. The severity of your signs and symptoms depends on how many of these genes have mutations:

Only one gene mutation: you won’t have any signs or symptoms of thalassemia.
Two gene mutations: your thalassemia signs and symptoms will be mild, and you likely won’t need any treatment.
Three gene mutations: you’ll have moderate to severe thalassemia and need treatment.
Having mutations in all four of these genes is rare. If you have a baby with all four genes mutated, unfortunately, they’ll likely be stillborn or die shortly after birth. But sometimes, a baby with all four mutations can survive with treatment.

Beta Thalassemia

There are two genes involved in making beta chains of hemoglobin. Again, the severity of your signs and symptoms depends on how many gene mutations you have:

One gene mutation: , you’ll have mild signs and symptoms of thalassemia.
Both gene mutations: you’ll have moderate to severe signs and symptoms of thalassemia.

In both cases (alpha and beta thalassemia), you‘ll pass on the affected genes to your children.

Signs and Symptoms

Thalassemia symptoms usually appear in the first two years of life. You might have this health condition if you have had some issues since childhood.:

Family members with a history of anemia
Fatigue
Shortness of breath
Abnormal heartbeats
Bone issues

You may also have other signs and symptoms, like:

Weakness
Dizziness
Headache
Leg cramps
Difficulty concentrating
Pale skin

Also, people of Black/African American, Mediterranean, or Southeast Asian descent are more likely to have thalassemia than other groups of people.

Moderate to Severe Symptoms

If you have a moderate to severe case of thalassemia, you can end up with one or more of the complications below:

Bone deformities: Thalassemia can make the core of your bones–the marrow–expand, causing your bones to widen and become oddly shaped. This can happen to many bones in your body, especially your face and skull. Your likelihood of getting broken bones also increases.
Enlarged spleen: The spleen helps fight infection and destroy old or abnormal cells in your body. If you have thalassemia, your red blood cells are abnormal because they have poorly formed hemoglobin. When this happens, the spleen enlarges and works harder than normal to destroy abnormal RBCs. If your spleen gets too large, you may need to remove it with surgery.
Infection: If you’ve had your spleen removed, you are at increased risk of infection because the spleen helps fight against germs in your body.
Slow growth rates: Thalassemia can cause anemia that slows a child’s growth and delays puberty.
Heart problems: Congestive heart failure and abnormal heart rhythms are associated with thalassemia.

Diagnosis

Your doctor can diagnose thalassemia by taking a blood sample and sending it to a lab for testing. This will show abnormalities in your red blood cells. Doctors can also diagnose thalassemia before your baby is born with two tests: chorionic villus sampling and amniocentesis.

To diagnose thalassemia:

Chorionic villus sampling examines a small piece of the placenta.
Amniocentesis uses fluid surrounding a baby in the womb.

Treatments

Thalassemia treatment varies depending on how severe your disorder is. If you have mild thalassemia, you likely won’t need any treatment. If you have moderate to severe thalassemia, you’ll likely need the following treatments:

Blood transfusions: These will get working red blood cells into your blood.
Chelation therapy: Too many blood transfusions can cause iron overload. Too much iron in your blood can lead to heart, liver, and hormone problems. Chelation therapy removes excess iron from the blood. Your doctor can use oral and IV medications for chelation therapy.
A bone marrow transplant using stem cell therapy: A donor can give you stem cells that doctors transplant into your bone marrow. Stem cells are donated at a stage when they can develop into any specialized cell. When implanted into your bone marrow, stem cells make normal red blood cells to replace your defective red blood cells. This is the only treatment that can cure thalassemia.

Thalassemia life expectancy depends on the severity of your disease and how well you treat your condition. While you can have a normal lifespan with a mild case of thalassemia, moderate to severe cases can shorten your life to 50 years or less. It’s possible to lead a full, long life if you get appropriate treatment for your condition.

Next Steps

If you or your child have thalassemia, there are steps you can take to stay healthy:

Avoid excess iron since you are already at risk of iron overload from blood transfusions.
Eat a healthy diet with enough vitamin D and calcium to keep your bones strong.
Take a folic acid supplement to help your body make new red blood cells.
Avoid infections by washing your hands frequently and avoiding sick people.
Get your annual flu shot, along with vaccines to prevent COVID, pneumonia, meningitis, and hepatitis B, since you are at higher risk of getting these infections.

Talk to your doctor about any symptoms you or your child have. Your doctor may tell you to see a hematologist, which is a doctor that specializes in blood disorders. It may be helpful to join a support group where you can talk to others with this health condition or who have children with it. Ask your doctor about support groups in your area. You can also check out several personal stories about thalassemia here.

Resource Links:

“Thalassemia” via CDC
“Thalassemia” via Mayo Clinic
“The Influence of Cardiovascular Risk Factors and Hypogonadism on Cardiac Outcomes in an Aging Population of Beta-Thalassemia Patients” via Journal of Cardiovascular Development and Disease