Key Points

• Thalassemias are inherited blood disorders. "Inherited" means they're passed on from parents to children.
• Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin than normal.
• People who have thalassemias can have mild or severe anemia. This condition is caused by a lower than normal number of red blood cells or not enough hemoglobin in the red blood cells.
• The two major types of thalassemia are alpha thalassemia and beta thalassemia. There are different forms of each type.
• Thalassemias occur when the genes that control the production of hemoglobin are missing or altered. Your body won't work properly if your red blood cells don't make enough healthy hemoglobin.
• Family history and ancestry are the two risk factors for thalassemias. If your parents have missing or altered hemoglobin-making genes, you may have thalassemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Asian, and African descent.
• Signs and symptoms of thalassemias are due to lack of oxygen in the bloodstream. They may include mild to severe anemia; slowed growth and delayed puberty; bone problems; and enlarged spleen, liver, or heart; a pale and listless appearance; poor appetite; dark urine; and jaundice (a yellowish color of the skin or whites of the eyes). Symptoms depend on the type of thalassemia you have. Silent carriers have no symptoms.
• Doctors diagnose thalassemias using blood tests, including a complete blood count and special hemoglobin tests. Prenatal testing can show whether an unborn baby has thalassemia and how severe it's likely to be.
• People who have mild thalassemia often need little or no treatment. There are three standard treatments for moderate and severe forms of thalassemia. These include blood transfusions, iron chelation therapy, and folic acid supplements.
• Better treatments now allow people who have moderate and severe thalassemias to live much longer. As a result, these people must cope with complications of the disease that develop over time. Complications include heart and liver disease, infections, osteoporosis, and other problems.
• Thalassemias can't be prevented because they're inherited. However, these blood disorders can be found before birth through prenatal testing.
• Living with thalassemia can be challenging, but several approaches can help you cope. Follow your doctor's treatment plan, get ongoing medical care, take measures to stay healthy, and seek help and support.