It's Your Choice

What is Thalassemia?

Thalassemia is an inherited deficiency of hemoglobin in the red blood cells. Hemoglobin is the substance that carries oxygen and gives blood its red color.

Two Forms of Thalassemia

Thalassemia occurs in two forms:

1. Thalassemia trait or thalassemia minor is not a disease.
2. Thalassemia major is a disease.

Thalassemia Trait

Thalassemia trait occurs when a person inherits one thalassemia gene from one parent and a normal hemoglobin gene from the other parent. A person with thalassemia trait is well and usually unaware that he or she has the condition. Some individuals with thalassemia trait have a mild anemia but this generally does not cause symptoms.

Since thalassemia is inherited, a person can pass it on to one's children. If one parent has thalassemia trait and the other parent has the normal type of hemoglobin (A) there is a 50% (1 in 2) chance with EACH pregnancy that the baby will be born with thalassemia trait.

When ONE parent has thalassemia trait, the child may inherit

• two normal hemoglobin genes
• or one normal hemoglobin gene and one thalassemia gene.

With EACH pregnancy there is a:

Thalassemia Major

Thalassemia major occurs when a person inherits two thalassemia genes, one from each parent. Thalassemia major is a severe disease.

The baby with thalassemia major appears normal at birth. Toward the end of the first year appetite and energy diminish. The skin becomes pale, certain bones of the face may become prominent, and growth is slower than normal. Anemia is found and treatment with iron fails. Blood transfusions are required and are generally continued throughout life. Although there is treatment, it is not satisfactory and there is NO cure. Life span is reduced.

Thalassemia major does not cause mental retardation, but is a severe physical handicap.

If both parents have thalassemia trait, there is a 25% (1 in 4) chance with EACH pregnancy that the baby will have thalassemia major.

In thalassemia, the red blood cells have an abnormal appearance:

NORMAL	THALASSEMIA TRAIT	THALASSEMIA MAJOR

When BOTH parents have thalassemia trait, the child may inherit

• two normal hemoglobin genes
• or one normal hemoglobin gene and one thalassemia gene
• or two thalassemia genes

With EACH pregnancy there is a:

There is a simple and accurate test for thalassemia. It requires a sample of blood taken from a vein. However, this test is not done routinely and must be requested. The test measures hemoglobin A₂.

Why is it Important to Know if I Have Thalassemia?

If you have thalassemia trait, you may have a mild anemia. This anemia might be mistaken for other kinds of anemia, especially iron deficiency anemia. Some people with thalassemia trait take iron medication because they believe their anemia is due to iron deficiency. Iron medication is not necessary and may even be harmful unless it has been established by specific tests that you are deficient in iron.

MOST IMPORTANT, if you and your partner have thalassemia trait, you are at risk for having children with thalassemia major, a serious disease without satisfactory treatment. At the present time, the principal treatment for children with thalassemia major is regular blood transfusions.

What Can I Do if I Have Thalassemia Trait?

If you have thalassemia trait, you need not be concerned for your own health. However, you may be at risk for having a child with thalassemia major.

If your partner is tested and proves to have the normal type of hemoglobin, then no child born to the two of you can have thalassemia major.

If your partner does have thalassemia trait, you are at risk of having a child with thalassemia major. Your physician can discuss the options available to you.

Even if you have had children who do not have thalassemia major, you might still consider a test for your partner. If both parents have thalassemia trait, the risk of a thalassemia major is the same for each pregnancy no matter how many children with normal hemoglobin or with thalassemia trait you have already had.

Wouldn't it reassure you to know that you are free of the risk of having a child with thalassemia major?

Prevalence of Thalassemia

Thalassemia trait is found in people whose ancestors come from Cyprus, Greece, Italy, Turkey, the Arabian Peninsula, and Asia, including India, Pakistan, Southern China, Thailand, Cambodia, Vietnam and Laos. It is also found in people from Africa and the West Indies. It is estimated that two million people in the United States have thalassemia trait.

There are different hemoglobins that a person can inherit that can combine with thalassemia trait to cause disease. The most common of these are sickle hemoglobin and hemoglobin E.

For further information ask your health care provider or call or write to us:

Division of Genetics, Box 641
University of Rochester Medical Center
601 Elmwood Avenue
Rochester, New York 14642
(716) 275-4602

Visit our website: www.medicine.rochester.edu/genetics

Comments/Suggestions to: Evony_Reyes@urmc.rochester.edu