Thalassemia is a type of anemia, which means your body makes fewer healthy red blood cells and less hemoglobin than normal. At Seattle Cancer Care Alliance (SCCA), our team of experts provides comprehensive diagnostic and medical care for people with all types of thalassemia.
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What are thalassemias?
Thalassemias are inherited blood disorders that cause your body to make less hemoglobin than normal. Hemoglobin is the red protein that fills your red blood cells. It enables the blood cells to carry oxygen from your lungs to the rest of your body and to carry carbon dioxide from other parts of your body back to your lungs to be exhaled.
To make a molecule of hemoglobin, your body first needs to make specific parts called globin chains. There are two main types of chains, alpha and beta. Each molecule of hemoglobin needs 2 alpha chains and 2 beta chains. In thalassemias, your body can’t make enough of 1 of these chains. As a result, you can’t make a normal amount of hemoglobin.
Without making enough hemoglobin, your body can’t fill as many healthy red blood cells as usual. You may develop anemia, which means your tissues don’t get as much oxygen as they need.
Thalassemias happen because of a mutation in the genes used to make globins. These diseases can be passed down in families. In fact, they are the most commonly inherited diseases in the world.
Types of thalassemia
There are two main types of thalassemia, named after the globin you have less of: alpha thalassemia and beta thalassemia.
Four genes can cause alpha thalassemia. Your thalassemia depends on how many of these genes have mutations.
- Hemoglobin Bart’s hydrops fetalis syndrome: This is the most severe type of alpha thalassemia. It affects people who inherit mutations in all 4 genes. It causes severe anemia even before birth.
- Hemoglobin H disease: This affects people who inherit mutations in 3 out of the 4 genes. It causes moderate anemia.
- Alpha thalassemia trait: This affects people who inherit mutations in 2 out of the 4 genes. It causes mild anemia.
- Alpha thalassemia carrier: This affects people who inherit mutations in 1 out of the 4 genes. It usually causes no symptoms.
Beta thalassemias are divided into these groups:
- Beta thalassemia major: This affects people who inherit an abnormal gene from both parents. It causes severe anemia, usually diagnosed in the first year of life. People with beta thalassemia major need blood transfusions.
- Beta thalassemia minor (or trait): This affects people who inherit only 1 abnormal gene from 1 parent. It leads to very mild anemia that usually doesn’t cause any symptoms.
- Beta thalassemia intermedia: This affects people who inherit an abnormal gene from both parents. It causes anemia, but the severity varies from person to person. You may not know you have it until sometime in adulthood.
An important subtype of thalassemia is caused by a specific gene mutation that makes a form of hemoglobin called hemoglobin E. Hemoglobin E is common in southeastern Asia. Combined with mutations that cause beta thalassemia, it can cause severe thalassemia.
Symptoms and diagnosis of thalassemia
Thalassemia symptoms can range from mild to severe.
If you have anemia, meaning your blood cannot deliver enough oxygen throughout your body, you may feel weak, dizzy or short of breath when you exercise, and you may have a pale skin. If anemia is severe, you may notice chest pain or a rapid or irregular heartbeat.
Your spleen may be working overtime to help make more red blood cells. This can cause your spleen get larger. Your doctor might notice this during an exam, and you might feel unusually full after meals.
If you have no symptoms or only mild symptoms, you might not find out you have thalassemia unless abnormal results appear on a blood test that you have for another reason.
Some people with thalassemia are diagnosed in childhood because:
- Their symptoms are severe enough to cause concern.
- They have family members with the condition.
- Anemia shows up on a routine blood test.
- Their pediatrician notices something unusual, such as not growing as expected, having an enlarged spleen or having bone abnormalities.
SCCA offers a full array of services to diagnose thalassemia. Along with examining you and asking about your health history and family history, your doctor may order blood tests. These tests can check your level of hemoglobin and the number and size of your red blood cells. Specific tests to study your hemoglobin and genetic tests can also be done to tell whether you (and your family members) have thalassemia.
SCCA’s hematologists provide care for adults with all types of thalassemia. We tailor a treatment plan to you. Your plan may include several different approaches, such as:
- Folic acid supplements to support your body in making red blood cells
- Blood transfusions to boost your red blood cell level and fight the effects of anemia
- Chelation therapy — taking medicine to remove excess iron from your body
- Medicines that increase the production of red blood cells by your bone marrow
- Bone marrow transplant to give you stem cells that make normal hemoglobin
- New medicines, gene therapy or other treatments available in clinical trials
- Genetic counseling if you plan to have children
It’s also important to receive regular care to check for and treat complications that can arise from anemia or iron overload. These can include:
- Heart and blood vessel problems, such as irregular heartbeat, congestive heart failure and pulmonary hypertension
- Liver problems, such as scarring (fibrosis or cirrhosis), due to too much iron
- Skin complications, such as leg ulcers and changes in the elastic fibers in your skin (pseudoxanthoma elasticum)
- Early bone thinning (osteopenia and osteoporosis)
- Problems related to hormones, such as diabetes, hypothyroidism and fertility concerns
Your SCCA team works closely with you to support you in living a healthy life and to make sure you receive the care you may need from a variety of specialists.