What Is Thalassemia?
Thalassemia is an inherited blood condition. When you have it, your body has fewer red blood cells and less of a protein called hemoglobin than it should. Hemoglobin is important because it lets your red blood cells carry oxygen to all parts of your body. Because of this, people with this condition may have anemia, which is when you have too few healthy red blood cells.
There are several names for various types of thalassemia. Some you might hear include:
- Alpha thalassemia
- Beta thalassemia
- Constant spring
- Cooley's anemia
- Hemoglobin Bart's hydrops fetalis
- Mediterranean anemia
Thalassemia Causes and Risk Factors
You get thalassemia when you inherit changes (mutations) in certain genes from your parents. These genes control your body's production of the two proteins that make up hemoglobin, called alpha globin and beta globin. Six genes, three from each parent, are responsible for these two proteins. Scientists have identified more than 200 gene variations that can cause thalassemia.
If you get a variant gene from just one parent, you may have mild symptoms or none at all. If you inherit two or more copies of abnormal genes from your parents, you may get mild to severe thalassemia, depending on which type of protein is affected.
The condition is more common in people with ancestry from Asia, Africa, the Middle East, and Mediterranean countries like Greece or Turkey.
Thalassemia Types
Thalassemia is a group of blood problems, not just one. The two types are:
- Alpha thalassemia, which happens when one or more genes for the alpha globin protein are missing or mutated
- Beta thalassemia, which happens when one or more genes for the beta globin protein are missing or mutated
Both types include different subcategories. For alpha thalassemia, the more gene mutations you got from your parents, the more serious your condition is. For beta thalassemia, the part of the hemoglobin molecule that's affected determines how serious your condition will be.
Alpha thalassemia
Four genes are responsible for making the alpha protein. You get two from each parent. Subtypes of alpha thalassemia include:
- Alpha thalassemia minima, which is when you have one missing or mutated gene. You may pass this gene to your children as a carrier, but you won't have symptoms.
- Alpha thalassemia minor, when you have two missing or mutated genes. You might have mild symptoms or none at all.
- Hemoglobin H disease, when you have three missing or mutated genes. This causes symptoms that are moderate to severe.
- Alpha thalassemia major (hydrops fetalis with Hemoglobin Barts), which is a rare condition in which all four genes are missing or mutated. Most babies with this condition are stillborn or die soon after birth. But some can be treated by having blood transfusions throughout their lives.
Beta thalassemia
Two genes are needed to make the beta protein. You get one from each parent. Subtypes of beta thalassemia include:
- Beta thalassemia minima, in which you have one missing or mutated gene and few or no symptoms
- Beta thalassemia minor, in which you have one missing or mutated gene and mild symptoms
- Beta thalassemia intermedia, in which you have two missing or mutated genes and moderate symptoms
- Beta thalassemia major (Cooley's anemia), in which you have two missing or mutated genes and serious symptoms
Thalassemia Symptoms
Your symptoms will depend on what type of thalassemia you have and how serious it is. If you're missing two of the alpha genes or one of the beta ones, you may have no symptoms. Or you might have mild symptoms of anemia, such as tiredness.
In some people, symptoms show up at birth. In others, it can take a couple of years.
Thalassemia symptoms may include:
- Intense fatigue
- Shortness of breath
- Dizziness or weakness
- Irregular or fast heartbeat
- Headaches
- Leg pain
- Trouble concentrating
- Pale or yellow skin
- Dark urine
- Lack of appetite
- Slow growth
- Late puberty
- Wide or brittle bones
- Irregular bone structure of the face
- A swollen belly due to liver problems or an enlarged spleen (an organ in your belly that helps fight disease)
- Developmental or intellectual disabilities
Thalassemia Diagnosis
Your doctor might diagnose thalassemia after a routine blood test if you have no symptoms or just mild ones. More serious types of thalassemia usually bring on noticeable symptoms before you're 2 years old.
If a doctor thinks you or your child may have it, they'll do a physical exam and ask questions about symptoms and health history.
They'll also likely do blood tests, such as:
Complete blood count. This is usually the first test your doctor will do. It measures amounts of hemoglobin and certain blood cells in your blood. Those with thalassemia have fewer healthy red blood cells and less hemoglobin than usual.
Hemoglobin electrophoresis test. This measures how much and what type of hemoglobin you have.
Peripheral blood smear. This test, also called a manual differential, looks at certain characteristics of red blood cells.
Iron studies. These tests measure levels of iron in your blood so the doctor can rule out iron deficiency as the cause of anemia.
Erythrocyte porphyrin levels. This test can rule out both iron deficiency and lead poisoning as the cause of the symptoms.
You may also have genetic testing to find out what type of thalassemia you have.
Prenatal diagnosis of thalassemia
If you're pregnant or trying to conceive, you can have genetic blood testing to learn whether you or your partner carry any of the genes that cause thalassemia. You can also get tests to learn whether your baby will have the condition. Such tests include:
Chorionic villus sampling. This tests a tiny piece of the placenta to see if the fetus has the genes that cause thalassemia. Doctors usually do it around the 11th week of pregnancy.
Amniocentesis. Usually done around the 16th week of pregnancy, this test is done on a sample of the fluid surrounding the fetus.
Digital PCR analysis. This type of noninvasive genetic testing involves testing the mother's blood for DNA from the fetus.
If you or your child are diagnosed with thalassemia, you'll need to see a blood expert known as a hematologist. You may also need other special doctors on your team, like those who treat the heart or liver.
Thalassemia Treatment
With a mild case, you may feel tired and not need treatment. But if it's more serious, your organs may not get the oxygen they need.
The main treatments of thalassemia are:
Blood transfusions. A transfusion is a way to get donated blood or parts of blood that your body needs, like hemoglobin, through an IV. How often you need transfusions can vary. Some people have one every few weeks. Your transfusion schedule may change as you get older.
Sometimes, blood transfusions cause reactions like a high fever, nausea, diarrhea, chills, and low blood pressure. If you have any of these, see your doctor. Donated blood in the U.S. is very safe. But there's a remote chance that you could get an infection from a blood transfusion.
Chelation therapy. Blood transfusions are important for people with thalassemia. But they can cause too much iron in the blood (and people with thalassemia tend to have high iron levels anyway). This can lead to problems with the heart, liver, and blood sugar. If you get transfusions, you and your doctor will talk about whether you need medicine that can help remove extra iron from your body. Chelation medications include deferasirox (Exjade and Jadenu), deferiprone (Ferriprox), and deferoxamine (Desferal). You take some types as pills and some as shots.
Other treatments include:
Stem cell or bone marrow transplant. An infusion of stem cells from a matched donor can sometimes cure thalassemia. But these procedures aren't done often because they're risky and it can be hard to find a suitable donor. Both involve harvesting stem cells, which can develop into types of blood cells, from a healthy donor. In a stem cell transplant, the cells are taken from the bloodstream. In a bone marrow transplant, they're collected from the donor's bone marrow.
Surgery. Some people with thalassemia need surgery to have their spleen take out (splenectomy). Your spleen removes ineffective red blood cells and can become enlarged when you have thalassemia. Splenectomy may help your red blood cells live longer and mean you need fewer transfusions.
Medications. Drugs used to treat thalassemia include:
- Hydroxyurea, a chemotherapy drug that might be used off-label to treat thalassemia. It stimulates your body to produce fetal hemoglobin (HbF), which you usually stop making after birth. The HbF helps make up for a lack of adult hemoglobin.
- Luspatercept (Reblozyl), which fights anemia by helping your body produce more red blood cells. Your doctor may prescribe if if you have beta thalassemia that requires regular transfusions.
Supplements. Your doctor might recommend folic acid supplements to help your body produce healthy red blood cells.
Thalassemia Complications
If your anemia becomes serious, it can cause permanent organ damage and even death. Some people with moderate to severe thalassemia have other health problems.
Complications of thalassemia may include:
Iron overload. Both blood transfusions and thalassemia itself can lead to raised levels of iron in your body. Too much iron can harm your heart, liver, and endocrine system (the glands that produce your body's hormones).
Bone changes. Your bones may become thin and brittle. And the bones in your face could look out of shape or distorted.
Slowed growth. You may be shorter than others because your bones don't grow normally. Puberty may be delayed.
Enlarged spleen. When you have thalassemia, your spleen might have to work too hard to filter old or damage blood cells. This extra work might cause it to become larger, which could worsen your anemia and cause discomfort in your belly area.
Heart problems. Thalassemia raises your risk of congestive heart failure and abnormal heart rhythms.
Gallbladder or liver problems. You may develop gallstones and jaundice because you have too much bilirubin in your system. Bilirubin is a substance formed when red blood cells break down.
Higher risk of infections. Your spleen is part of your immune system, so you lose some protection from infections if you have it removed. Also, there's a risk that blood you get during transfusions may carry infections.
Neurological problems. Thalassemia sometimes leads to nerve pain and other neurological complications.
Infertility. Iron overload in the pituitary gland, which helps controls male and female reproductive organs, can cause fertility problems in people with thalassemia. Delayed puberty can play a role in infertility, too.
These problems don't happen to everyone who has thalassemia.
Living With Thalassemia
If you have thalassemia, the most important thing you can do for your health is to follow the treatment schedule your doctor recommends. It's also important to have regular medical checkups and testing.
Certain habits can help you stay well:
- Get all the vaccines that your doctor recommends, including the flu shot. This is important because you may be at a higher risk of infections.
- Eat a healthy diet, low in fat and high in fruits and veggies, to keep your bones strong and give you energy. You may need to limit iron-fortified foods as well as those that are naturally high in iron, like meat, fish, and leafy greens.
- Do regular cardio and strength-building exercise to keep your bones strong. If you have joint issues, try low-impact movements like yoga or swimming. Talk to your doctor about what's right for you.
- If you get a fever or feel ill, see your doctor.
- Stay away from sick people and wash your hands often.
- Ask your doctor about supplements like calcium and vitamin D to protect your bone health. But stay away from iron supplements.
- Don't smoke, and if you drink, do so in moderation. This can help to keep your heart and your bones healthy.
- If the strain of living with a chronic disease is making you feel stressed, sad, or alone, seek support from family members and friends. It may also help to talk with a mental health professional.
Thalassemia Prevention
You can't prevent thalassemia because it's in your genes.
If you have it and you want to have children, consider talking with a genetics counselor. This is an expert in health issues that are passed down through families. The counselor will explain your risk of having a child with thalassemia.
If you and/or your partner carry thalassemia and your future children will be at risk, it's possible to make sure they won't have it with in vitro fertilization. A doctor will test the embryos before choosing which to implant.
Thalassemia Outlook
Your outlook depends on how serious your thalassemia is. Some people will have only mild symptoms. Severe thalassemia, on the other hand, can sometimes lead to heart failure and an early death. But most people with thalassemia can expect to live as long as those who don't have the condition, as long as they keep up with their treatments. New thalassemia treatments mean that people who have it are living longer with fewer symptoms.
Still, managing a chronic condition can be time-consuming and stressful. You may want to look into joining a support group, so you can connect with others who have the condition.
Takeaways
Thalassemia is an inherited condition in which you have less of a blood protein called hemoglobin than you should. This can lead to anemia and other symptoms that range from mild to serious. If you have thalassemia, the most important thing you can do for your health is to follow your doctor's treatment recommendations.
Thalassemia FAQs
What is the main cause of thalassemia?
You can only get thalassemia by inheriting changes or variations in certain genes from your parents. It's a condition you're born with, not one you can catch like the flu.
What happens if you have thalassemia?
This depends on what type of thalassemia you have and how serious it is. Some people have mild symptoms or none at all.More serious cases can cause severe anemia, with symptoms like fatigue and shortness of breath, and could lead to organ damage You might need regular blood transfusions or a stem cell transplant.
Can thalassemia be cured?
The only potential way to cure thalassemia is with a stem cell or bone marrow transplant. But not everyone is a candidate for these procedures. They can be risky, it's often hard to find a suitable donor.
Can patients with thalassemia live a normal life?
Most people with thalassemia can expect to have a normal lifespan if they keep up with their treatments. You'll need regular doctor visits and tests, too.
Can I marry a patient with thalassemia?
People with thalassemia can have lasting romantic relationships just like anyone else. If you or your partner have thalassemia or a family history of it and plan to have children, doctors recommend that you get genetic counseling first. This can help you and your partner understand your risks of having children with the condition and learn about your options.
Can thalassemia cause death?
Severe thalassemia can cause organ failure and lead to early death. But getting regular treatments can improve your health and lengthen your lifespan.
Infants born with a serious type of thalassemia called hydrops fetalis are often stillborn or die shortly after birth.