Key Points

• Thalassemias are inherited blood disorders. "Inherited" means that parents pass the genes for the disorder on to their children.
• Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin than normal. Hemoglobin is an iron-rich protein that carries oxygen to all parts of the body and helps remove carbon dioxide (a waste gas) from the body.
• People who have thalassemias can have mild to 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 well 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.
• A lack of oxygen in the bloodstream causes the signs and symptoms of thalassemias. Signs and symptoms may include mild to severe anemia; slowed growth and delayed puberty; bone problems; an 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.
• Improved treatments now allow people who have moderate and severe thalassemias to live longer. As a result, these people must cope with complications of the disease that develop over time. Complications include heart and liver diseases, 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 steps to stay healthy, and seek help and support.
• If you have thalassemia, you may benefit from taking part in a clinical trial. Clinical trials test new ways to prevent, diagnose, or treat various diseases and conditions. For more information about clinical trials for thalassemias, talk with your doctor.

• Clinical Trials

  The National Heart, Lung, and Blood Institute (NHLBI) is strongly committed to supporting research aimed at preventing and treating heart, lung, and blood diseases and conditions and sleep disorders.
  NHLBI-supported research has led to many advances in medical knowledge and care. Often, these advances depend on the willingness of volunteers to take part in clinical trials.
  Clinical trials test new ways to prevent, diagnose, or treat various diseases and conditions. For example, new treatments for a disease or condition (such as medicines, medical devices, surgeries, or procedures) are tested in volunteers who have the illness. Testing shows whether a treatment is safe and effective in humans before it is made available for widespread use.
  By taking part in a clinical trial, you can gain access to new treatments before they're widely available. You also will have the support of a team of health care providers, who will likely monitor your health closely. Even if you don't directly benefit from the results of a clinical trial, the information gathered can help others and add to scientific knowledge.
  If you volunteer for a clinical trial, the research will be explained to you in detail. You'll learn about treatments and tests you may receive, and the benefits and risks they may pose. You'll also be given a chance to ask questions about the research. This process is called informed consent.
  If you agree to take part in the trial, you'll be asked to sign an informed consent form. This form is not a contract. You have the right to withdraw from a study at any time, for any reason. Also, you have the right to learn about new risks or findings that emerge during the trial.
  For more information about clinical trials related to thalassemias, talk with your doctor. You also can visit the following Web sites to learn more about clinical research and to search for clinical trials: