About Thalassemia

Visit Thalapedia for additional information

Thalassemia is a genetic blood disorder that affects the production of the hemoglobin, the oxygen carrying component of the red blood cell. Because of this, patients have to get blood transfusions, usually every two to three weeks. These blood transfusions are done at a hospital and can take anywhere from six to eight hours or more. After some time, the blood cells break down and leave iron in the patient’s body. This iron will bind to the major organs of the body, such as the liver or heart. If left alone, the iron will overload these organs until they will not be able to do their job creating other health problems for the patient.

Thankfully there is a drug called Desferal. Desferal binds to the iron in the patient’s body and removes it. This process is called chelation. This drug is usually administered subcutaneously, in places like the stomach or legs, every night up to twelve hours a day. This treatment will start early, usually when a child is between one and two years old.

But these are not the only problems faced by patients with Thalassemia. The psychological and emotional toll put on them by this disease is staggering and can be overwhelming. That is why this organization was founded. To support them and help them.

If you would like to learn more about this disorder, please click on one of the questions below:

What is Thalassemia? (return to top)

Thalassemia is a term that refers to a group of genetic disorders characterized by insufficient production of hemoglobin. There are two proteins involved in the production of hemoglobin, alpha and beta. If there is a deficiency in either of these proteins the red blood cells do not form properly and cannot carry adequate amounts of oxygen to all parts of the body. This then results in organs that are starved for oxygen and unable to function properly.

Is Thalassemia contagious? How would I get Thalassemia? (return to top)

Thalassemia is a genetic disorder caused by the inheritance of a recessive gene from both parents. You cannot “catch it” from someone. In pregnancies where both parents carry the recessive gene there is a 1 in 4 chance that the child will have the severe form of thalassemia, a 2 in 4 chance that the child will carry the gene for thalassemia and a 1 in 4 chance that the child will neither have the disease or be a carrier.

How do you know if you have Thalassemia? (return to top)

Thalassemia can be detected in utero if the parents know that they are carriers through a prenatal test called chorionic villus sampling (CVS). If the parents are unaware that they are carriers, blood tests after birth will result in a diagnosis. Symptoms of Thalassemia include the following: paleness of the skin, poor appetite, failure to grow normally, jaundice, severe anemia, enlargement of the spleen. Thalassemia is usually diagnosed through the use of blood tests showing small abnormally shaped red blood cells and/or a hemoglobin electrophoresis showing abnormal hemoglobin.

Are there different types of Thalassemia? (return to top)

Alpha thalassemia appears in people whose hemoglobin does not produce enough alpha protein. There are five types of alpha thalassemia:

  • Silent Carrier
  • Alpha Thalassemia Trait
  • Hemoglobin H Disease
  • Hemoglobin H – Constant Spring
  • Alpha Thalassemia Major

Beta thalassemia appears in people whose hemoglobin does not produce enough beta protein. There are three types of beta thalassemia:

  • Thalassemia minor or Thalassemia trait – In this condition the individual has smaller than normal red blood cells but generally has no health problems. Occasionally, those with this condition suffer from mild anemia.
  • Thalassemia Intermedia – In this condition the lack of beta protein causes more severe anemia and other health problems commonly associated with Thalassemia major (bone deformities and enlarged spleen). These individuals need more regular transfusions but it is typically to improve life not for survival.
  • Thalassemia Major or Cooley’s Anemia – This is the most severe of the beta thalassemias. These individuals require regular blood transfusions and other medical treatment for survival.

Well, who gets Thalassemia? (return to top)

Thalassemia can show up in any population of people.

Alpha thalassemia tends to be more common in people with the following ancestry:

  • African
  • Middle Eastern
  • East Indian
  • Southeast Asian (Vietnamese, Laotian, Thai, Singaporean, Filipino, Cambodian, Malaysian, Burmese and Indonesian)
  • Chinese
  • Occasionally Mediterranean (Italian and Greek)

Beta thalassemia tends to be more common in people with the following ancestry:

  • Mediterranean (Italian and Greek)
  • Iranian
  • African
  • Southeast Asian
  • Chinese

E Beta thalassemia tends to be more common in people with the following ancestry:

  • Southeast Asian (Cambodian, Vietnamese and Thai)

Sickle Beta Thalassemia tends to be more common in people with the following ancestry:

  • Mediterranean (Italian, Greek and Turk)

How do you treat Thalassemia? (return to top)

The treatment of thalassemia depends on the severity of the disease for each individual. For those individuals with mild forms of the thalassemia often no treatment is required however as the severity of the disease increases blood transfusions become the primary treatment. The transfusions can occur as frequently as every 2-3 weeks in order to maintain the hemoglobin at near normal levels so as to promote physical growth and general well-being. However this hypertransfusion, as it is referred to, is not without its own risks. The primary one being the risk of iron overload. Our bodies can only process so much iron and the excess iron from the transfusions is stored in the organs, primarily the liver. To help combat iron overload, individuals with thalassemia must employ chelation therapy. This refers to the use of a chelator, Desferal, to remove the excess iron from the system. Desferal is administered subcutaneously and/or intravenously. This drug binds to the iron and the iron is reduced through elimination of bodily functions.

How does Thalassemia affect you? (return to top)

It is hard to measure specifically how thalassemia will or does affect you. For those who are only carriers or have a mild form of the disease there is often very little affect. They might be slightly anemic or have to have occasional transfusions but otherwise lead “normal” lives.

Individuals who have the severe form of the disease have much to deal with physically and psychologically. Physically, thalassemia patients often suffer from enlargement of the spleen, liver, and/or heart. Their bones become thin and brittle and many will eventually suffer from osteoporosis. Additionally, the bones of the face may become distorted. Individuals with thalassemia are often smaller than their peers due to the fact that they generally grow slower. From a treatment standpoint, the most severe forms of thalassemia require regular blood transfusions and subsequent iron removal through chelation therapy. Each year there are also numerous medical tests to determine the progression of the disease and the success of the current protocol for each individual.

Psychologically, thalassemia is a disease that, if allowed, can control your life. It is difficult to explain to others that you have a genetic blood disorder that requires on-going medical treatment. It is difficult to have to take responsibility for your medical care. It is difficult to have to spend so much time in the hospital or with doctors. It is difficult to be different.


There are many people with thalassemia who are living “normal” lives. They have thalassemia and it is a part of who they are but it is not the only thing in their lives. These individuals make it to adulthood, they go to college, they get married and yes, some of them even have children. How? They have made a commitment to themselves that life is worth living and so they take whatever steps are necessary to make that happen. They are diligent about their treatment. They develop relationships with the medical professional in charge of their care. Most importantly they surround themselves with people who love and support them and with others who have thalassemia and can relate to their experience, especially organizations like the Thalassemia Support Foundation. Get involved, make a difference!