Have you or your family inherited Thalassemia?

Thalassemia is an inherited blood disorder. It is one of the most common genetic conditions in the world.

Genes are hereditary units passed from parents to children. Thalassemia is caused by genes that are not formed properly, or are missing altogether. There are several different types of Thalassemia depending on the affected genes.

Thalassemia reduces the blood's ability to carry oxygen. Oxygen is in the air that we breathe. Our blood gets oxygen from our lungs and delivers it to all parts of the body. The oxygen is carried "piggyback" by hemoglobin in the blood. Hemoglobin is the transport system that delivers the oxygen where it is needed. This process is essential to life! Those with Thalassemia, have a lower level of hemoglobin available to transport oxygen.

Who is at Risk?

Thalassemia is most often found in families whose ancestors are from:

• Southeast Asia
• Philippines
• Mediterranean countries (e.g. Italy and Greece)

Families of other ethnic origins could also be affected.

How do people get Thalassemia?

Thalassemia is inherited. It is passed through genes from parents to children from one generation to the next.

A Thalassemia carrier is a person who has certain genes which are missing or not working, but does not show signs of illness. Carriers usually feel perfectly healthy. However, the children and grandchildren of carriers may be affected by Thalassemia.

How does Thalassemia affect a person's health?

Those who have Thalassemia are at increased risk for health problems. Depending on the form of Thalassemia inherited, problems range from mild, to very serious illness, and even still birth.

Why is it important to know about Thalassemia?

• Many of Hawaii's families have relatives or ancestors from countries where Thalassemia is common.
• Thalassemia can be a silent condition. Carriers may feel healthy and, thus, are unaware of the risks to their children and grandchildren.
• Special blood tests can now accurately detect Thalassemia in children and adults, and can even identify Thalassemia before a baby is born.
• Every family can now learn what to expect based on their results.
• Some forms of Thalassemia can be effectively treated.
• Sometimes Thalassemia is mistaken for iron deficiency anemia, or low blood count.

When should you be tested for Thalassemia?

Whatever your age, you should be tested now. It's important to know about Thalassemia at any stage of life:

• Before pregnancy
• During pregnancy
• As children
• As young adults
• As grandparents

How can a family get tested for Thalassemia?

Through their doctor.

Either a family will ask their doctor to check for Thalassemia or the doctor will recommend that the family be tested.

A blood sample is needed to detect Thalassemia. When the results show mild anemia, the cause needs to be identified. Is it Thalassemia? Is it iron deficiency anemia?

A written report will be sent to the doctor and the family. Kapi'olani Medical Center's Genetic Counselors are available to help explain Thalassemia to families.

< Back to Fetal Diagnostic Center