Thalassemia (say "thal-uh-SEE-mee-uh") is an inherited blood disorder that causes your body to make less hemoglobin or abnormal 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.
There are two main types: 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 two genes that make beta-globin don't work or only partly work as they should.
This type occurs when one or more of the four alpha-globin genes that make hemoglobin are missing or damaged.
A defect in one or more genes causes thalassemia.
If you, either parent, or any of your siblings have thalassemia or carry a gene for thalassemia and you're thinking about having a child, you may want to talk to a genetic counselor before you get pregnant. A genetic counselor can tell you how likely it is that your child will have the disease and how severe it might be.
Mild thalassemia usually doesn't cause any symptoms.
Moderate or severe disease may cause symptoms of anemia. For example, you may feel weak, tire out more easily, and feel short of breath. Other symptoms also can occur depending on how severe your disease is and what problems it causes.
Children with severe thalassemia may grow slowly (failure to thrive), have skull bones that are not shaped normally, and have problems with feeding, frequent fevers, and diarrhea.
Your doctor will do an exam and ask about your health history. Tests you may need include:
If you learn that you have thalassemia, your family members should to talk to their doctors about testing.
Treatment depends on how severe your condition is.
Most large medical centers have treatment centers for blood disorders. They are an excellent resource to help you and your family get the best care.
If you have repeated blood transfusions, it's possible for your body to get too much iron. This can damage your organs, especially the liver. Make sure to avoid vitamins that contain iron, and don't take extra vitamin C, which can increase how much iron you absorb from food. If you have too much iron, your doctor may give you chelation therapy. This is a medicine that helps remove iron from your body.
Less common treatments for severe thalassemia include:
Get a flu vaccine each year. Also talk to your doctor about getting a pneumococcal vaccine. These vaccines may protect you from severe infections, which can make anemia worse and cause severe illness in people with thalassemia.
|Centers for Disease Control and Prevention (CDC): Blood Disorders|
|1600 Clifton Road MS E-87|
|Atlanta, GA 30333|
The Centers for Disease Control and Prevention (CDC) helps promote and improve the health of people with certain blood disorders. The CDC promotes research, provides education to patients and health professionals, and promotes prevention programs.
|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.
|National Heart, Lung, and Blood Institute (NHLBI)|
|P.O. Box 30105|
|Bethesda, MD 20824-0105|
The U.S. National Heart, Lung, and Blood Institute (NHLBI) information center offers information and publications about preventing and treating:
|National Human Genome Research Institute, National Institutes of Health (NIH)|
|NIH Building 31, Room 4B09, 31 Center Drive|
|MSC 2152, 9000 Rockville Pike|
|Bethesda, MD 20892-2152|
|Phone:||Phone: (301) 402-0911|
The National Human Genome Research Institute (NHGRI) supports genetic and genomic research, investigation into the ethical, legal, and social implications surrounding genetics research, and educational outreach activities. (Genome refers to a complete gene sequence in a organism.) NHGRI also supports the training of investigators and provides genome information, including fact sheets and school materials, to the public and to health professionals.
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.
- Thalassemia (2011). In RS Hillman et al., eds., Hematology in Clinical Practice, 5th ed., pp. 65–78. New York: McGraw-Hill.
- Weatherall DJ (2010). The thalassemias: Disorders of globin synthesis. In K Kaushansky et al., eds., Williams Hematology, 8th ed., pp. 675–707. New York: McGraw-Hill.
|Primary Medical Reviewer||E. Gregory Thompson, MD - Internal Medicine|
|Specialist Medical Reviewer||Joseph O'Donnell, MD - Hematology, Oncology|
|Last Revised||July 1, 2011|
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