What is thalassemia?
Thalassemia (say "thal-uh-SEE-mee-uh") is an inherited blood disorder that causes your body to make less hemoglobin. Hemoglobin helps red blood cells spread oxygen through your body. Low levels of hemoglobin may cause anemia, an illness that makes you feel weak and tired. Severe anemia can damage organs and lead to death.
What causes thalassemia?
Thalassemia is passed from parent to child. A defect in one or more genes causes it. Both parents must carry a gene for the disease in order to pass it to their child.
What are the symptoms?
Mild thalassemia usually does not cause any symptoms.
If you have moderate or severe thalassemia, you may have signs of anemia, such as:
How is thalassemia diagnosed?
Your doctor will do an examination and ask about your health history. Tests include:
How is it treated?
Treatment depends on how severe your condition is.
If you are treated with blood transfusions, it’s possible for your body to get too much iron through repeated transfusions. This can damage your organs, especially the liver. If you have too much iron, your doctor may give you chelation therapy, which is a medicine that helps remove iron from your body.
What are the types of thalassemia?
There are two main types of thalassemia: alpha and beta. Beta thalassemia is the most common.
You need both alpha- and beta-globin to make hemoglobin. Beta thalassemia occurs when one or both of the genes that make beta-globin don't work or only partly work as they should. It mainly affects people from the region around the Mediterranean Sea (such as Greeks and Italians). Less often, it affects people of African or Asian descent. And in the late 1970s there were cases reported in French-speaking Quebec families whose ancestors were not from the Mediterranean. There are several types of beta thalassemia.
Currently there is no general screening for thalassemia in Canada. If you are from an at-risk ethnic group and are considering having a child, talk to your doctor about the possibility of your child being born with thalassemia. You may be referred for genetic counselling.
Alpha thalassemia occurs when one or more of the four alpha-globin genes that make hemoglobin are missing or damaged. It mainly affects people from Southeast Asia, China, and the Philippines, but it sometimes affects people of African descent and can occur throughout the world.
There are four types of alpha thalassemia. Each type represents the loss of or damage to one, two, three, or four genes.
Frequently Asked Questions
Learning about thalassemia:
Living with thalassemia:
Mild thalassemia usually does not cause any symptoms.
People who have more severe forms of the condition may develop symptoms of anemia, which may include:
Less common symptoms of severe thalassemia include:
Children with a more severe form of thalassemia (beta thalassemia major, or Cooley's anemia) usually have symptoms of anemia within the first few months of life. Paler skin is often the first sign of the disease. Infants may grow slowly (failure to thrive). Other symptoms may include feeding problems, frequent fevers, and diarrhea. Without early treatment, a child may die or develop severe problems, such as:
Related problems of severe thalassemia may include:
A physical examination and complete medical history are usually the first steps in diagnosing thalassemia. Your medical history includes:
Results of tests reveal important information, such as the type of thalassemia. Tests that help confirm a diagnosis of thalassemia include:
Doctors often diagnose the most severe form of thalassemia (beta thalassemia major, or Cooley's anemia) during the first year of a child's life.
Treatment for thalassemia depends on the severity of the condition. Thalassemia may be mild, moderate, or severe.
Mild thalassemia is the most common form and does not require treatment.
Moderate thalassemia (thalassemia intermedia and more severe hemoglobin H disease) may be treated with:
If you have moderate thalassemia, do not take medicines that increase the amount of iron in the body, which can damage organs. These medicines include:
Severe thalassemia is often treated with:
Other treatments that doctors consider for severe cases of thalassemia include:
What to Think About
Blood transfusion therapy often creates an excess of iron. An excess of iron, if untreated, may damage organs. You may need to use medicines called chelating agents that bind to and remove excess iron from the blood. The chelating agent deferasirox (Exjade) is taken as a pill once a day. The chelating agent deferoxamine mesylate (Desferal) is injected through a tube placed under the skin. A portable pump delivers the medicine in what is usually an all-night procedure. This treatment works best if it is done 5 or 6 nights a week. Both deferoxamine and deferasirox have potentially serious side effects, including hearing loss and kidney, liver, and eye problems.
Researchers are studying how well medicines (hydroxyurea and butyrate) work to get the body to produce fetal hemoglobin in children and adults who have thalassemia. Fetal hemoglobin is different from adult hemoglobin. The body does not normally produce it after birth. Fetal hemoglobin may help adult hemoglobin work better in people who have thalassemia.
If you have blood transfusions to treat your thalassemia, you need to avoid vitamins that increase iron stored by the body. Excess iron can cause serious damage to your organs. Avoid the following vitamins:
You may want to get flu shots once a year. Talk to your doctor about getting a pneumonia shot. These shots may protect you from severe infections, which can make anemia worse in people who have thalassemia.
It is also important to get help from people who are specially trained in the medical and emotional effects of thalassemia. Talk to your doctor about groups that can help you cope with the impact this disease has on you and your family.
If you or any of your family members (parents or siblings) have thalassemia or thalassemia trait and you are thinking about having a child, you may want to talk to a health professional who specializes in the study of inherited disorders (genetic counsellor) before you become pregnant. A genetic counsellor can tell you how likely it is that your child will have thalassemia and how severe it might be.
|Canadian Association of Genetic Counsellors (CAGC)|
The Canadian Association of Genetic Counsellors (CAGC) is a professional organization of genetic counsellors, physicians, social workers, and students in related fields.
|Canadian Directory of Genetic Support Groups|
|Canadian Association of Genetic Counsellors (CAGC) and the Children's Hospital at London Health Sciences Centre|
The Canadian Directory of Genetic Support Groups provides a resource guide for families and professionals seeking information on genetic support groups in Canada.
|151 Bloor Street West|
|Toronto, ON M5S 1S4|
Anemia Institute provides education, information, and support services among patients and health professionals about all aspects of anemia.
|Cooley's Anemia Foundation|
|330 Seventh Avenue|
|New York, NY 10001|
Cooley's Anemia Foundation is a nonprofit organization dedicated to serving people afflicted with various forms of thalassemia, most notably the major form of this genetic blood disease, Cooley's anemia (thalassemia major). The foundation's mission is to advance the treatment and cure for thalassemia, enhance the quality of life of people who have it, and educate the medical profession, trait carriers, and the public about this fatal blood disease. The foundation encourages donations of blood, since thalassemia patients are the single largest users of blood supplies in the nation, and also sponsors chapters and support groups.
|Iron Disorders Institute|
|P.O. Box 675|
|Taylors, SC 29687|
The Iron Disorders Institute is a national voluntary health agency that provides information about iron disorders such as hemochromatosis, acquired iron overload, sickle cell anemia, thalassemia, iron deficiency anemia, and anemia of chronic disease. The organization works with a scientific review board as well as various medical professional groups. A free newsletter, idInsight, is available.
|Thalassemia Foundation of Canada|
|338 Falstaff Avenue|
|North York, ON M6L 3E7|
|Phone:||(416) 242-THAL [(416) 242-8425]|
|Fax:||(416) 242-THAL [(416) 242-8425]|
Thalassemia Foundation of Canada provides resource referrals, support, and education to patients and family members of those with thalassemia.
Other Works Consulted
- Borgna-Pignatti C, Galanello R (2009). Thalassemias and related disorders: Quantitative disorders of hemoglobin synthesis. In JP Greer et al., eds., Wintrobe's Clinical Hematology, 12th ed., vol. 1, pp. 1083–1131. Philadelphia: Lippincott Williams and Wilkins.
- Hillman RS, Ault KA (2005). Thalassemia. In Hematology in Clinical Practice, 4th ed., pp. 65–79. New York: McGraw-Hill.
- Vadolas J, et al. (2004). Cellular genomic reporter assays for screening and evaluation of inducers of fetal hemoglobin. Human Molecular Genetics, 13(2): 223–233.
- Weatherall DJ (2006). Disorders of globin synthesis: The thalassemias. In M Lichtman et al., eds., Williams Hematology, 7th ed., pp. 633–666. New York: McGraw-Hill.
|Primary Medical Reviewer||E. Gregory Thompson, MD - Internal Medicine|
|Specialist Medical Reviewer||Brian Leber, MDCM, FRCPC - Hematology|
|Last Revised||October 21, 2009|
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