Thalassemias
What Are Thalassemias?
Thalassemias are inherited blood disorders. "Inherited" means that parents pass the genes for the disorder on to their children.
What Causes Thalassemias?
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.

What Are the Signs and Symptoms of Thalassemias?
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.
How Are Thalassemias Diagnosed?
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 other treatment is Blood and Marrow Stem Cell Transplant.
Complications of Thalassemias
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.
How Can Thalassemias Be Prevented?
Thalassemias can't be prevented because they're inherited. However, these blood disorders can be found before birth through prenatal testing.
Living With Thalassemias
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.
Get Ongoing Medical Care
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.