Table of ContentsView AllTable of ContentsWhat It DoesThalassemia TypesCausesSymptomsDiagnosisTreatmentPossible ComplicationsCan It Be Prevented?OutlookWhen to See a Provider
Table of ContentsView All
View All
Table of Contents
What It Does
Thalassemia Types
Causes
Symptoms
Diagnosis
Treatment
Possible Complications
Can It Be Prevented?
Outlook
When to See a Provider
Thalassemiais a group of blood disorders in which the body doesn’t make enoughhemoglobin, the protein that carries oxygen in red blood cells. In thalassemia, red blood cells don’t function as well or last as long as they should. This shortage of healthy red blood cells means some cells in the body can’t get enough oxygen.
People with thalassemia may develop mild to severeanemia. Anemia is when you don’t have enough healthy red blood cells. Mild anemia can cause symptoms such as fatigue and shortness of breath but doesn’t always require treatment. Severe anemia can lead to serious organ damage. Treatment may include regular blood transfusions.
Thalassemia usually is an inherited condition, but in some instances, it can be acquired, usually in a person with a type of blood cancer. This article explains thalassemia, including the types, causes, symptoms, diagnosis, treatment, and outlook.
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What Does Thalassemia Do to a Person?
Thalassemia is a serious disease that can have a huge impact on your life. Even if you have a mild case, you’ll always want to monitor the condition. It can be managed, and many people with thalassemia live long, healthy lives. More severe cases require lifelong treatment and can lead to serious complications.
Thalassemia
The two main types of thalassemia are alpha and beta, based on which part of the hemoglobin protein isn’t being made.
Alpha-Thalassemia
Alpha-thalassemiais related to changes or deletions in genes that make a protein subunit of hemoglobin called alpha-globin. This involves two adjacent genes (HBA1 and HBA2) on one chromosome.You inherit two of these genes from each parent since you get one chromosome from each parent (a total of four genes).
This can result in these types of thalassemia:
While usually an inherited condition, alpha-thalassemia can also develop secondary to a cancer of the blood-forming cells. In most cases, this occurs in a person withmyelodysplastic syndrome.
Beta-Thalassemia
Beta-thalassemia involves changes (mutations) of the HBB gene that makes a protein subunit of hemoglobin called beta-globin.You inherit one of these genes from each parent. This can result in these types:
Beta thalassemiacan extremely rarely occur as an acquired, non-inherited condition, usually in a person with myelodysplastic syndrome.
Thalassemia Causes and Risk Factors
Thalassemia happens when you inherit certaingene mutationsor gene deletions. Alpha-thalassemia usually involves mutations in the HBA1 and HBA2 genes, but there are rare syndromes involving other genes.Beta-thalassemia is usually the result of a mutation in the HBB gene.
Except in rare instances, if you inherit these gene mutations from only one parent, you’ll be a silent carrier and won’t develop thalassemia. When both parents are carriers, the children have a 25% chance of inheriting two trait genes and developing the disease. They have a 50% chance of being a trait carrier. Thalassemia is most common in people whose ancestry is:
Acquired alpha-thalassemia or beta-thalassemia are rare and usually seen when a person has a type of blood cancer. The cancerous cells have undergone non-inherited genetic changes that result in thalassemia.
Thalassemia Symptoms
Symptoms vary according to type and severity. Anemia causes most signs and symptoms associated with thalassemia, including:
Children with severe types of thalassemia may have:
Most people with thalassemia have health problems within a few months of birth. In mild cases, symptoms may not be apparent until later in childhood or adulthood.
How Thalassemia Is Diagnosed
If your provider suspects thalassemia, they’ll likely ask about your family’s medical history. Diagnostic testing may include:
Newborn screening testscheck for many blood abnormalities, including beta-thalassemia.
If you’re pregnant and think your fetus may be at risk of thalassemia, ask your healthcare provider about prenatal testing such as:
Thalassemia Treatment and Home Care
Treatment depends on the type and severity. If you’re a carrier, you don’t need treatment. People with alpha- or beta-thalassemia traits have mild to no symptoms and may not need treatment.
Blood transfusionsare the main treatment for moderate to severe thalassemia. In this procedure, you get healthy red blood cells through an intravenous (IV) line, which can take several hours.
How often you need a transfusion depends on the severity of the disease and your desired hemoglobin levels. A transfusion every three to four weeks may be necessary for people with beta-thalassemia major.
Astem cell transplantis a potential cure for thalassemia, but finding a good match is rare.In this procedure, healthy blood cell precursors (stem cells) are harvested from a compatible donor. The recipient’s bone marrow is treated to eliminate their stem cells. The donor cells are infused into the recipient. They migrate to the bone marrow and establish new production of healthy blood cells.
Other treatments can include:
Self-care measures should include:
Thalassemia makes your body work harder to make red blood cells. This can lead tocomplicationssuch as:
Other potential complications include:
Can You Prevent Thalassemia?
In cases of inherited thalassemia, there’s really no way to prevent it. But you might consider testing for thalassemia if a family member has it. You can also speak with agenetic counselorto assess the risk of passing it on to your children.
Thalassemia Outlook and Life Expectancy
Thalassemia can often be managed. People with mild thalassemia generally have a normal life expectancy.
Life expectancy for severe types has improved a lot over the past half century. This may be due, in part, to early detection, transfusions, and chelation therapy. Heart disease is the most common cause of death associated with thalassemia.
With proper treatment, many people with severe thalassemia are likely to live into their 50s, 60s, and beyond.
When to See a Healthcare Provider
See a healthcare provider if you or your child have any signs or symptoms of thalassemia. Also, consider meeting with a genetic counselor if you have a family history of the disease.
Summary
Thalassemia is a blood disorder in which your body doesn’t make enough healthy hemoglobin. That leads to a shortage of healthy red blood cells, known as anemia. Symptoms can range from mild to life-threatening.
Many people with mild thalassemia live a normal, healthy life span. Treatment for more serious cases usually involves periodic blood transfusions and iron chelation therapy.
Thalassemia is an inherited condition, so there’s no way to prevent it. Symptoms usually appear early in childhood. Early treatment is crucial, so see a healthcare provider if your child has symptoms.
12 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Organization for Rare Disorders (NORD).Alpha thalassemia.Orphanet.Alpha-thalassemia-myelodysplastic syndrome.National Organization for Rare Disorders (NORD).Beta thalassemia.Brunner AM, Steensma DP.Myelodysplastic syndrome associated with acquired beta thalassemia: “BTMDS.“Am J Hematol. 2016;91(8):E325-7. doi:10.1002/ajh.24400National Human Genome Research Institute.About thalassemia.Centers for Disease Control and Prevention.Thalassemia: complications and treatment.National Heart, Lung, and Blood Institute.Thalassemia symptoms.National Health Service U.K.Thalassaemia.March of Dimes.Thalassemia.National Heart, Lung, and Blood Institute.Thalassemia treatment.Patterson S, Singleton A, Branscomb J, Nsonwu V, Spratling R.Transfusion complications in thalassemia: patient knowledge and perspectives.Front Med.2022;9:772886. doi:10.3389/fmed.2022.772886Chonat S, Quinn CT.Current standards of care and long term outcomes for thalassemia and sickle cell disease.Adv Exp Med Biol.2017;1013:59-87. doi:10.1007/978-1-4939-7299-9_3Additional ReadingBaird DC, Batten SH, Sparks SK.Alpha- and Beta-thalassemia: Rapid Evidence Review.Am Fam Physician.2022;105(3):272-280.Centers for Disease Control and Prevention.What is thalassemia?National Heart, Lung, and Blood Institute.Thalassemia diagnosis.
12 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Organization for Rare Disorders (NORD).Alpha thalassemia.Orphanet.Alpha-thalassemia-myelodysplastic syndrome.National Organization for Rare Disorders (NORD).Beta thalassemia.Brunner AM, Steensma DP.Myelodysplastic syndrome associated with acquired beta thalassemia: “BTMDS.“Am J Hematol. 2016;91(8):E325-7. doi:10.1002/ajh.24400National Human Genome Research Institute.About thalassemia.Centers for Disease Control and Prevention.Thalassemia: complications and treatment.National Heart, Lung, and Blood Institute.Thalassemia symptoms.National Health Service U.K.Thalassaemia.March of Dimes.Thalassemia.National Heart, Lung, and Blood Institute.Thalassemia treatment.Patterson S, Singleton A, Branscomb J, Nsonwu V, Spratling R.Transfusion complications in thalassemia: patient knowledge and perspectives.Front Med.2022;9:772886. doi:10.3389/fmed.2022.772886Chonat S, Quinn CT.Current standards of care and long term outcomes for thalassemia and sickle cell disease.Adv Exp Med Biol.2017;1013:59-87. doi:10.1007/978-1-4939-7299-9_3Additional ReadingBaird DC, Batten SH, Sparks SK.Alpha- and Beta-thalassemia: Rapid Evidence Review.Am Fam Physician.2022;105(3):272-280.Centers for Disease Control and Prevention.What is thalassemia?National Heart, Lung, and Blood Institute.Thalassemia diagnosis.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
National Organization for Rare Disorders (NORD).Alpha thalassemia.Orphanet.Alpha-thalassemia-myelodysplastic syndrome.National Organization for Rare Disorders (NORD).Beta thalassemia.Brunner AM, Steensma DP.Myelodysplastic syndrome associated with acquired beta thalassemia: “BTMDS.“Am J Hematol. 2016;91(8):E325-7. doi:10.1002/ajh.24400National Human Genome Research Institute.About thalassemia.Centers for Disease Control and Prevention.Thalassemia: complications and treatment.National Heart, Lung, and Blood Institute.Thalassemia symptoms.National Health Service U.K.Thalassaemia.March of Dimes.Thalassemia.National Heart, Lung, and Blood Institute.Thalassemia treatment.Patterson S, Singleton A, Branscomb J, Nsonwu V, Spratling R.Transfusion complications in thalassemia: patient knowledge and perspectives.Front Med.2022;9:772886. doi:10.3389/fmed.2022.772886Chonat S, Quinn CT.Current standards of care and long term outcomes for thalassemia and sickle cell disease.Adv Exp Med Biol.2017;1013:59-87. doi:10.1007/978-1-4939-7299-9_3
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Orphanet.Alpha-thalassemia-myelodysplastic syndrome.
National Organization for Rare Disorders (NORD).Beta thalassemia.
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National Human Genome Research Institute.About thalassemia.
Centers for Disease Control and Prevention.Thalassemia: complications and treatment.
National Heart, Lung, and Blood Institute.Thalassemia symptoms.
National Health Service U.K.Thalassaemia.
March of Dimes.Thalassemia.
National Heart, Lung, and Blood Institute.Thalassemia treatment.
Patterson S, Singleton A, Branscomb J, Nsonwu V, Spratling R.Transfusion complications in thalassemia: patient knowledge and perspectives.Front Med.2022;9:772886. doi:10.3389/fmed.2022.772886
Chonat S, Quinn CT.Current standards of care and long term outcomes for thalassemia and sickle cell disease.Adv Exp Med Biol.2017;1013:59-87. doi:10.1007/978-1-4939-7299-9_3
Baird DC, Batten SH, Sparks SK.Alpha- and Beta-thalassemia: Rapid Evidence Review.Am Fam Physician.2022;105(3):272-280.Centers for Disease Control and Prevention.What is thalassemia?National Heart, Lung, and Blood Institute.Thalassemia diagnosis.
Baird DC, Batten SH, Sparks SK.Alpha- and Beta-thalassemia: Rapid Evidence Review.Am Fam Physician.2022;105(3):272-280.
Centers for Disease Control and Prevention.What is thalassemia?
National Heart, Lung, and Blood Institute.Thalassemia diagnosis.
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