Thalassemia is a blood disorder. It lowers the number of healthy red blood cells in the body. Red blood cells carry oxygen to all the organs in the body. Low levels make it hard to get enough oxygen throughout the body.
Hemoglobin is an important part of red blood cells. It is needed for red blood cells to pick up oxygen. Hemoglobin is abnormal in thalassemias. The type of thalassemia will depend on what part of the hemoglobin is affected:
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Thalassemia is caused by problems in specific genes. The altered gene or genes are passed from the parents. There are 4 genes needed for changes in hemoglobin, 2 from each parent. The number of genes that are passed will decide how severe thalassemia is:
Factors that increase your chance of thalassemia include:
Symptoms most often begin within 3 to 6 months of birth. Symptoms of mild or moderate anemia may include:
Symptoms of severe anemia include:
Thalassemia can also lead to complications such as:
Silent carriers will have no symptoms.
You will be asked about symptoms and health history. A physical exam will be done. A blood test will measure levels of:
Anemia can be diagnosed after blood tests. Further tests of hemoglobin will show thalassemia. Genetic testing may help make the diagnosis for those that are silent carriers.
Treatment will be based on the type and severity of anemia. Mild forms may not need treatment. More severe forms may need:
Blood is collected from a healthy donor. It is carefully screened and treated, then delivered to recipient. The transfusions will immediately increase the number of healthy red blood cells.
Blood cells are formed in the bone marrow. A bone marrow transplant uses healthy cells from a donor to grow new bone marrow. This can let the body grow healthy red blood cells. It may be a cure for some people. However, there can be complications from this type of procedure. It can also be hard to find a good match with a donor. It may not be an option for everyone.
The spleen is a small organ near the stomach. It helps to recycle old red blood cells. Anemia can enlarge the spleen. This can make anemia worse. The spleen may need to be removed. The surgery may help cut back on the number of blood transfusions that are needed.
Extra stress on your body can make you feel worse. Basic steps can help improve your overall health and reduce stress on your body:
Special steps will be needed during pregnancy. It is important to make sure a care team knows about thalassemia.
Blood tests and family genetic studies will show if you are a carrier. A genetic counselor can discuss the risks of passing on the disease.
Northern California Comprehensive Thalassemia Center
National Heart, Lung, and Blood Institute
Canadian Hemophilia Society
The Thalassemia Foundation of Canada
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Last reviewed September 2019 by EBSCO Medical Review Board Michael Woods, MD, FAAP Last Updated: 9/6/2019