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People with thalassemia have an inherited blood disorder that causes mild or severe anemia (uh-NEE-me-uh). The anemia is due to reduced hemoglobin (he-mo-GLOBE-in) and fewer red blood cells than normal. Hemoglobin is the protein in red blood cells that carries oxygen to all parts of the body.

In people with Thalassemia, the genes that code for hemoglobin are missing or variant (different than the normal genes). Severe forms of thalassemia are usually diagnosed in early childhood and are lifelong conditions.

The two main types of thalassemia, alpha and beta, are named for the two protein chains that make up normal hemoglobin. The genes for each type of thalassemia are passed from parents to their children. There are mild and severe forms of the disease, the latter often called Cooley's anemia. Cooley's anemia is the most common severe form of thalassemia seen in the U.S.

             Thalassemia Major                                                            Thalassemia Minor.

Alpha thalassemia: occurs when one or more of the four genes needed for making the alpha globin chain of hemoglobin are variant or missing. Moderate to severe anemia results when more than two genes are affected. Alpha thalassemia major can result in miscarriages.

Beta thalassemia: occurs when one or both of the two genes needed for making the beta globin chain of hemoglobin are variant. The severity of illness depends on whether one or both genes are affected, and the nature of the abnormality. If both genes are affected, anemia can range from moderate to severe.



  1. Alpha Thalassemias

  2. Alpha thalassemia "silent carrier"

  3. Mild alpha thalassemia, also called alpha thalassemia minor or alpha thalassemia trait

  4. Hemoglobin H disease

  5. Hydrops fetalis, or alpha thalassemia major

  6. Beta Thalassemias

  7. Beta thalassemia minor, also called thalassemia minor or thalassemia trait

  8. Beta thalassemia intermedia, also called thalassemia intermedia or mild Cooley's anemia

  9. Beta thalassemia major, also called thalassemia major or Cooley's anemia

  10. Mediterranean anemia

  11. Cooley's anemia sometimes is used to refer to any type of thalassemia that requires treatment with regular blood transfusions.



Thalassemia is caused by variant or missing genes that affect how the body makes hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. People with thalassemia make less hemoglobin and fewer circulating red blood cells than normal, which results in mild or severe anemia.

There are many possible combinations of variant genes that cause the various types of thalassemia. Thalassemia is always inherited (passed from parents to children). People with moderate to severe forms of thalassemia received variant genes from both parents. A person who inherits a thalassemia gene or genes from one parent and normal genes from the other parent is a carrier (thalassemia trait). Carriers often have no signs of illness other than mild anemia, but they can pass the variant genes on to their children.

Hemoglobin includes two kinds of protein chains called alpha globin chains and beta globin chains. If the problem is with the alpha globin part of hemoglobin, the disorder is alpha thalassemia. If the problem is with the beta globin part, it is called beta thalassemia. There are both mild and severe forms of alpha and beta thalassemia. Severe beta thalassemia is often called Cooley's anemia.


There are four genes involved in making the alpha globin part of hemoglobin--two from each parent. Alpha thalassemia occurs when one or more of these genes are variant or missing.

People with only one gene affected are called "silent carriers" and have no sign of illness.

People with two genes affected (alpha thalassemia trait, or alpha thalassemia minor) have mild anemia and are considered carriers.

People with three genes affected (hemoglobin H disease) have moderate to severe anemia.

Until recently, babies with all four genes affected (alpha thalassemia major, or hydrops fetalis) could not survive and usually died before birth. Today, many of these babies can survive with treatment.

If two people with alpha thalassemia trait (carriers) have a child, the baby could have a mild or severe form of alpha thalassemia or could be healthy.


  • There are two genes involved in making the beta globin part of hemoglobin--one from each parent. Beta thalassemia occurs when one or both of the two genes are variant.

  • If one gene is affected, a person is a carrier and has mild anemia. This condition is called beta thalassemia trait, or beta thalassemia minor.

  • If both genes are variant, a person may have moderate anemia (beta thalassemia intermedia, or mild Cooley's anemia) or severe anemia (beta thalassemia major, or Cooley's anemia).

  • If two people with beta thalassemia trait (carriers) have a baby, one of three things can happen:

  • The baby could receive two normal genes (one from each parent) and have normal blood (1 in 4 chance).

  • The baby could receive one normal gene from one parent, and one variant gene from the other parent, and have thalassemia trait (2 in 4 chance).

  • The baby could receive two thalassemia genes (one from each parent) and have a moderate to severe form of the disease (1 in 4 chance).

  • Who Gets Thalassemia?

  • Alpha thalassemias mostly affect people of Southeast Asian, Indian, Chinese, or Filipino origin or ancestry.

  • Beta thalassemias affect people of Mediterranean origin or ancestry (Greek, Italian, Middle Eastern) and people of Asian and African descent.

  • Thalassemia affects both males and females.

  • Thalassemia is passed from parents to children through their genes.



The symptoms of thalassemia depend on the type and severity of the disease. Symptoms occur when not enough oxygen gets to various parts of the body due to low hemoglobin and a shortage of red blood cells in the blood (anemia).

"Silent carriers" and persons with alpha thalassemia trait or beta thalassemia trait (also called carriers) usually have no symptoms. Those with alpha or beta thalassemia trait often have mild anemia that may be found by a blood test.

In more severe types of thalassemia such as Cooley's anemia, signs of the severe anemia are seen in early childhood and may include:

  • Fatigue (feeling tired) and weakness

  • Pale skin or jaundice (yellowing of the skin)

  • Protruding abdomen with enlarged spleen and liver

  • Dark urine

  • Abnormal facial bones and poor growth.

Babies with the most severe type of alpha thalassemia (hydrops fetalis) die before birth or soon after birth.



A complete blood count provides information about the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood. People with thalassemia have less hemoglobin than normal and fewer red blood cells than normal in their blood. Carriers of the trait may have slightly small red blood cells as their only sign.

Hemoglobin studies measure the types of hemoglobin in a blood sample.

  • Cooley's anemia is usually diagnosed in early childhood because of signs and symptoms and severe anemia. Some people with milder forms of thalassemia may be diagnosed after a routine blood test shows that they have anemia. Doctors suspect thalassemia if a child has anemia and is a member of an ethnic group that is at risk for thalassemia.

  • To distinguish anemia caused by iron deficiency from anemia caused by thalassemia, tests of the amount of iron in the blood may be done.

  • Family genetic studies are also helpful in diagnosing thalassemia. This involves taking a family history and doing blood tests on family members.

  • Prenatal testing can determine if an unborn baby has thalassemia and how severe it is likely to be.



Treatment for thalassemia depends on the type and severity of the disease.

People who are carriers (thalassemia trait) usually have no symptoms and need no treatment.

Those with moderate forms of thalassemia (for example, thalassemia intermedia) may need blood transfusions occasionally.

Those with severe thalassemia have a serious and life-threatening illness. They are treated with regular blood transfusions, iron chelation therapy, and bone marrow transplants. Without treatment, children with severe thalassemia do not live beyond early childhood.



Severe forms of thalassemia are treated by regular blood transfusions. A blood transfusion provides blood containing normal red blood cells from healthy donors, given through a needle in a vein. In thalassemia treatment, blood transfusions are done on a schedule (often every 2-4 weeks) to keep hemoglobin and red blood cell numbers at normal levels. Transfusion therapy can allow a person with severe thalassemia to feel better, enjoy normal activities, and live longer.

Transfusion therapy, while lifesaving, is expensive and carries a risk of transmission of viral and bacterial diseases (for example, hepatitis). It also leads to excess iron in the blood (iron overload), which can damage the liver, heart, and other parts of the body. To prevent damage, iron chelation therapy is needed to remove excess iron from the body.


Iron chelation therapy uses medicine to remove the excess iron that builds up in the body when a person has regular blood transfusions. If the iron is not removed, it damages body organs such as the heart and liver.

The medicine, deferoxamine (deh-fer-ROX-uh-meen), works best when given slowly under the skin, usually with a small portable pump overnight. This therapy is demanding and sometimes mildly painful, so some people stop chelation therapy. A pill form of iron chelation therapy is being studied.

People who have iron overload should not take vitamins or other supplements that contain iron.


Surgery may be needed if body organs such as the spleen or gall bladder are affected. For example, if the spleen becomes inflamed and enlarged, it may be removed. If gallstones develop, the gall bladder may be removed.


Bone marrow or stem cell transplants have been used successfully in some children with severe thalassemia. This is a risky procedure, but it offers a cure for those children who qualify.



People with severe thalassemia are more likely to get infections that can worsen their anemia. They should get an annual flu shot and the pneumonia vaccine to help prevent infections.

Folic acid is a B vitamin that helps build red blood cells. People with thalassemia should take folic acid supplements.

Researchers are also studying other treatments, including:

  • Gene therapy. Someday, it may be possible to cure an unborn child with thalassemia by inserting a normal gene into the child's stem cells.

  • Fetal hemoglobin. Researchers are studying ways to enhance production of fetal hemoglobin in people with thalassemia. Fetal hemoglobin is the type of hemoglobin made by the body before birth. After birth, the body usually switches from making fetal hemoglobin to the adult form of hemoglobin. Some children have a gene variant that prevents the switch, and their continuing production of fetal hemoglobin lessens the severity of their illness.



Although thalassemia cannot be prevented, it can be identified before birth by prenatal diagnosis.

People who have or believe that they may carry the thalassemia genes can receive genetic counseling to avoid passing the disorder to their children.



If you have moderate or severe thalassemia, you need to take care of your health.

Follow your treatment plan. See your doctor regularly for checkups and treatment.

If you must have regular blood transfusions and iron chelation therapy, it is important to continue with treatment as recommended.

If you have regular blood transfusions, you should avoid taking vitamins or other supplements containing iron.

Maintain a healthy diet. Your doctor may also give you a folic acid (a B vitamin) supplement every day to help your body make new red blood cells.

Get a flu shot every year and the pneumococcal vaccine to prevent infections.



1. How common is Cooley's anemia?

ANS: Cooley's anemia, or beta thalassemia major, is a rare condition. A survey in 1993 found 518 Cooley's anemia patients in the U.S, most with the severe form of the illness, but there may be more.

2. What is iron-deficiency anemia, and how is it different from the anemia in thalassemia?

ANS: Both kinds of anemia occur due to a problem with hemoglobin, the part of red blood cells that carries oxygen to all parts of the body. Iron deficiency anemia occurs because the body doesn't have enough iron for making hemoglobin. The anemia in thalassemia occurs not because of a lack of iron, but because of a problem with another component of hemoglobin--either the alpha globin chain or the beta globin chain. Iron supplements do nothing to improve the anemia of thalassemia, because missing iron is not the problem.

3. How long do people with severe thalassemia live?

ANS: The length of life depends on how severe the disorder is, how soon treatment begins, and how successful the treatment is. People with severe thalassemia who are able to continue therapy successfully may live into their 30s, 40s, and beyond.

4. What is fetal hemoglobin?

ANS: Fetal hemoglobin is a type of hemoglobin produced by unborn babies and infants. At some point soon after birth, the body switches to making the adult type of hemoglobin. In some children with thalassemia, a variant gene allows them to continue making some fetal hemoglobin. This means their anemia and symptoms are less severe than in people who stop making fetal hemoglobin. Researchers are testing ways to enhance fetal hemoglobin production after birth.

5. Does a person with thalassemia intermedia need blood transfusions?

ANS: Because the severity of thalassemia intermedia (sometimes called mild Cooley's anemia) varies from person to person, the need for treatment also varies. Some people with thalassemia intermedia need occasional transfusions, such as when they are experiencing stress due to an infection. If a person with thalassemia intermedia worsens and needs regular transfusions, he or she is no longer considered to have thalassemia intermedia. Instead, the person is said to have thalassemia major, or Cooley's anemia.



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