What Is Thalassemia?
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Medically reviewed by Daniel Combs, MD
Thalassemia is a rare, inherited (genetic) blood disorder that affects the production of hemoglobin—the protein in your red blood cells that carries oxygen to the rest of your body. Certain gene mutations that get passed down from parents to children can prevent your body from making the right amount of hemoglobin that it needs.
With fewer healthy red blood cells that can transport oxygen, thalassemia often causes anemia—the most common blood type of blood disorder. Mild anemia causes fatigue, shortness of breath, muscle cramping, or pale skin. Severe anemia can lead to organ damage, brittle bones, or a weakened immune system.
Symptoms of anemia and thalassemia often look similar. However, thalassemia usually requires more intensive treatment, which may include blood transfusions and bone marrow transplants to help your body produce more red blood cells.
Types of Thalassemia
Two protein chains make up hemoglobin: alpha globin and beta globin. The two main types of thalassemia are classified based on which globin protein chain the body is or isn't making correctly. Knowing the type of thalassemia you have helps healthcare providers determine the severity of your condition and recommend the most effective treatments.
Alpha Thalassemia
Alpha thalassemia develops due to mutations in the HBA1 and HBA2 genes. These genes produce alpha globin proteins. You have four alpha globin genes and you inherit two genes from each parent. If you have alpha thalassemia, one to all four of these genes may be missing (deleted).
Subtypes of alpha thalassemia are determined based on how many alpha globin genes are deleted. They include:
Alpha thalassemia minor (trait): Involves two deleted genes, which may cause mild or no symptoms
Alpha thalassemia intermedia (deletional HbH disease): Involves three deleted genes and causes moderate to severe symptoms
Alpha thalassemia major (hydrops fetalis): Involves four deleted genes, which can cause babies to die in utero (inside the birth parent's uterus) or shortly after birth
Beta Thalassemia
Mutations in the HBB gene, which produces beta globin proteins, cause beta thalassemia. You have two beta globin genes (one from each parent). Subtypes of beta thalassemia include:
Beta thalassemia minor (trait): Involves one altered beta globin gene and may cause mild symptoms or no symptoms at all
Beta thalassemia intermedia: Involves two altered genes and may cause moderate to severe symptoms
Beta thalassemia major (Cooley’s anemia): Involves two altered genes and causes very severe symptoms
Symptoms
Symptoms of thalassemia vary, depending on the type and severity of the condition. People with thalassemia may experience the following symptoms:
Pale skin
Jaundice (yellowing of the eyes and skin)
Rapid heartbeat
Trouble concentrating
Children born with certain types of thalassemia, including hemoglobin H disease, alpha thalassemia major, beta thalassemia intermedia, and beta-thalassemia major, usually develop symptoms within the first two years of life. In addition to typical thalassemia symptoms, children may also experience:
Slow growth
Delayed puberty
Bone deformities in the face and head
Irritability or moodiness
Abdominal swelling
Though less common than the primary symptoms, thalassemia can also increase your risk of experiencing the following:
Ulcers
Nutrient deficiencies, especially in vitamins C and D, folate, zinc, and copper
Causes
Thalassemia is an inherited disorder, meaning it is passed down from parent to child. The condition occurs when there are mutations (changes) in the genes that tell the body how to make alpha and beta globins, which are the building blocks of hemoglobin. These genetic mutations affect hemoglobin production, leading to a lack of healthy red blood cells to transport oxygen to the rest of your body.
The type of thalassemia a person has depends on which gene mutations they inherit from their parents:
Alpha thalassemia: Mutations or deletions in the HBA1 and HBA2 genes on chromosome 16 cause alpha thalassemia. Mutations in these genes interfere with the normal production of alpha-globin.
Beta thalassemia: Mutations in the HBB gene on chromosome 11 cause beta thalassemia. These mutations lead to a reduced or absent production of beta-globin.
Genetic mutations that cause thalassemia are passed down from parents to children in an autosomal recessive pattern. This means that both parents must carry the gene mutation for their child to develop thalassemia.
Parents who are both carriers of gene mutations associated with thalassemia (called thalassemia traits) have a 25% chance of having a child with the condition. If you inherit a copy of a mutated thalassemia gene from only one parent, you'll be a carrier of thalassemia but won't develop symptoms of the condition.
Risk Factors
Thalassemia is genetic, so having a family history of the disorder increases your chances of having this blood disorder. Anyone can develop thalassemia, but the condition is more common in people with certain ancestries, including:
Italian
Greek
Middle Eastern
South Asian
African
Diagnosis
If your healthcare provider suspects you have thalassemia, they will take your full medical history, perform a physical exam, and ask whether you have family members with the condition. To confirm a diagnosis, your provider can use genetic and blood testing. The most common diagnostic tests for thalassemia include:
Complete blood count (CBC): Measures the number and types of blood cells in your blood, including red blood cells and hemoglobin. People with thalassemia have less hemoglobin and fewer red blood cells than usual.
Hemoglobin electrophoresis: Checks the different types of hemoglobin in your blood.
Peripheral blood smear: Examines a blood sample to assess the size and shape of red blood cells. Those with thalassemia often have smaller red blood cells than usual.
Molecular genetic testing: Analyzes a DNA sample from your blood to detect mutations in the globin genes.
If you are pregnant and have a family history of thalassemia, your healthcare provider may recommend prenatal testing to screen for thalassemia. Prenatal tests performed during pregnancy can detect whether your baby may develop the condition. These tests include:
Chorionic villus sampling (CVS): This test takes place between 10 to 13 weeks of pregnancy and involves examining a sample of your placenta tissue to look for mutations in the globin genes associated with thalassemia.
Amniocentesis: A thin needle inserted through the pregnant person's abdomen extracts a sample of amniotic fluid (the fluid surrounding the fetus in the womb) to test for thalassemia and other genetic conditions. This test takes place between 15 to 20 weeks of pregnancy.
Treatment
Treatment for thalassemia varies, depending on the type and severity of the disorder. If you have mild thalassemia, you may not need treatment. But, if your condition is more severe, you'll likely require regular treatments to help elevate your red blood cell count and manage your symptoms.
Blood Transfusions
Regular blood transfusions are a cornerstone of treatment for moderate to severe thalassemia. Healthy red blood cells delivered through an intravenous (IV) line help increase the number of red blood cells in your body. This treatment can improve the amount of oxygen that gets transported to your body's cells and reduce anemia-related symptoms.
How frequently you need blood transfusions depends on your thalassemia type. People with hemoglobin H disease or beta thalassemia intermedia may need only the occasional blood transfusion, such as when sick, pregnant, or after surgery. Others with more severe thalassemia (e.g., beta thalassemia major) may need blood transfusions every three to four weeks to maintain healthy red blood cell counts.
Iron Chelation Therapy
People who receive regular blood transfusions are at an increased risk of iron overload (or, too much iron in the body). Iron chelation therapy helps remove excess iron from the body to prevent complications. Medications for iron chelation therapy include:
Deferasirox: Comes in pill form and may cause side effects such as skin rash, diarrhea, or nausea.
Deferoxamine: Liquid medicine delivered subcutaneously (under the skin) usually via a small portable pump that delivers the treatment overnight. This therapy can be painful and may cause vision and hearing problems.
Deferiprone: Taken as a pill if other iron chelation therapies are ineffective. This medicine can lower white blood cell counts, which can increase your risk of developing an infection.
Bone Marrow Transplant
A bone marrow transplant can cure thalassemia, but finding a compatible donor is rare. This procedure involves extracting stem cells from a healthy donor's bone marrow and infusing those stem cells into your bloodstream—similar to a blood transfusion. The stem cells travel to your bone marrow and stimulate the production of healthy red blood cells.
Other Treatments
Some people with thalassemia may need additional treatments to help manage symptoms. These treatments include:
Reblozyl (luspatercept): Medicine that may help red blood cells develop and mature more effectively to reduce the need for blood transfusions.
Folic acid supplements: Supplements containing folic acid may support red blood cell production in the body, helping reduce anemia symptoms.
Splenectomy: The surgical removal of your spleen may help manage symptoms in people with moderate to severe thalassemia.
How to Prevent Thalassemia
Since thalassemia is a genetic condition, it's not usually possible to prevent it. If you have a family history of thalassemia or ancestry associated with a higher risk of the disorder, genetic testing can help determine whether you are a carrier for thalassemia. If you and your partner are carriers of thalassemia traits or have thalassemia, a genetic counselor can explain the risks of passing thalassemia onto your child.
Related Conditions
People with thalassemia are at an increased risk of developing certain related conditions, such as:
Iron overload: Receiving regular blood transfusions can lead to iron overload, which occurs when your body has too much iron. If left untreated, iron overload can damage the liver, heart, and other organs.
Osteoporosis: Most red blood cell production takes place in the bone marrow. When the body exerts extra effort to produce red blood cells, your bones can become thin and weak, increasing the risk of fractures.
Enlarged spleen (splenomegaly): The spleen filters blood and helps break down old or damaged red blood cells. Thalassemia puts extra strain on the spleen, which can cause it to enlarge and make it harder for the spleen to filter blood and fight infections. As a result, many people with thalassemia have weakened immune systems and a higher risk of infections.
Heart problems: People with thalassemia who receive frequent blood transfusions are at an increased risk of developing heart problems, such as heart attack, arrhythmias, or heart failure.
Endocrine disorders: Diabetes, hypothyroidism, slowed growth, and delayed puberty are common in people with severe thalassemia.
Living With Thalassemia
Thalassemia is a lifelong condition that requires ongoing management. Following your treatment plan and being mindful of your lifestyle choices can help you live well with thalassemia. Thanks to research advancements that have led to life-saving treatments, people with thalassemia can expect a normal or near-normal lifespan. While these medical advances offer hope and promise, following your healthcare provider's recommendations is essential.
Managing thalassemia comes with logistical challenges, especially if you need frequent blood transfusions. Lean on family and friends for support (e.g., rides to the infusion center for blood transfusions and reminders to rest or take medication when needed). Talk to your healthcare provider if you struggle with managing the condition and they can find additional treatments and resources to better support your well-being.
Frequently Asked Questions
What is the life expectancy of a person with thalassemia?
The life expectancy of a person with thalassemia varies, depending on the severity of the condition and the effectiveness of treatment. With proper medical care and treatment, many people with thalassemia can expect a near-normal life expectancy, living well into their 50s and 60s.
What is the difference between anemia and thalassemia?
Anemia occurs when the body does not have enough healthy red blood cells to carry oxygen to the body's tissues. Thalassemia is a group of inherited blood disorders that affect the production of hemoglobin, the protein in red blood cells that carries oxygen. Anemia is common in people with thalassemia, but anemia also has other possible causes, including iron deficiency.
Why can't you take iron with thalassemia?
People with thalassemia who receive regular blood transfusions are at risk of iron overload. Iron overload is when the body has too much iron, which can damage the heart, liver, and other major organs. Taking iron supplements when you have thalassemia can worsen iron overload.
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