Dear Reader,

Thalassemia is a series of related genetic (inherited) disorders of the blood that decrease the body's ability to produce hemoglobin — a part of red blood cells that carries oxygen and other vital nutrients throughout the body. The severity and effects of thalassemia depend in part on whether a person gets the thalassemia gene from one or both parents.

People who receive the gene from only one parent have thalassemia minor and are also know as trait carriers. Minor thalassemia often goes undetected because it poses no significant health problems. It can cause a mild form of anemia (a condition involving a decreased number of red blood cells that can cause fatigue) that does not respond to iron supplements, a common treatment for anemia. Because this gene can be passed onto children, genetic counseling is recommended for people with minor thalassemia who are thinking about starting a family. The March of Dimes Resource Center has additional information about genetic counseling, including how to find a site close to you.

People who receive a thalassemia gene from both parents have major thalassemia, which is also known as Cooley's anemia or Mediterranean anemia. Major thalassemia is most often treated by blood transfusions to keep hemoglobin levels high enough to transport oxygen. Without treatment, major thalassemia can have serious health consequences, including:

• severe anemia
• growth problems, including fragile and enlarged bones, facial malformations, and delayed growth
• organ damage from iron deposits in the heart, liver, and pancreas
• spleen enlargement
• increased susceptibility to infection

Within the major thalassemia category are several different types of thalassemia that vary depending on which proteins a person's hemoglobin lacks. Each type of thalassemia can have specific complications.

Because it sounds like your condition was identified in adulthood rather than in infancy or early childhood, it is likely that your form of thalassemia is minor rather than major. Regardless, you need to consult with your health care provider or be referred to a specialist in thalassemia, someone who can be more clear and can explain things more carefully to you. S/he will recommend what courses of action and/or treatment are appropriate for you. Sometimes your insurance company or your primary care provider can help you find these specialists, including a genetic counselor.

Currently, there is no cure for thalassemia, but the Cooley's Anemia Foundation is working to help people with thalassemia get more education and better access to treatment. The organization has a patient's advocacy group and discussion forum that can help people address some of their questions and perhaps identify a specialist in their area.

If your doctor's still in the dark about this condition, forward this page to her or him (via the "send this Q&A to others" feature below), or print it for her or his education. Doc should be doing this for you, but, like you've wisely demonstrated, we sometimes need to be our own teachers.

Alice

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