"thal-uh-SEE-mee-uh") is an inherited blood disorder that causes your body to
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
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
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.
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 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.
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.
The U.S. National Heart, Lung, and Blood Institute
(NHLBI) information center offers information and publications about preventing
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
Other Works ConsultedBorgna-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.
July 1, 2011
E. Gregory Thompson, MD - Internal Medicine & Joseph O'Donnell, MD - Hematology, Oncology
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