How many people does thalassemia affect

In a bone marrow transplant, a person is first given high doses of radiation or drugs to destroy the defective bone marrow. The bone marrow is then replaced with cells from a compatible donor, usually a healthy sibling or other relative.

Bone marrow transplants carry many risks, so they usually are done only in the most severe cases of thalassemia.

Because living with alpha thalassemia can be challenging, people who are carriers of alpha thalassemia trait may want to seek genetic counseling if they're considering having children.

If your child has alpha thalassemia, support groups are available to help your family cope with the obstacles presented by the disease. Reviewed by: Robin E. Miller, MD.

Larger text size Large text size Regular text size. Thalassemias Thalassemias are a group of blood disorders that affect the way the body makes hemoglobin. While there are many different types of thalassemias, the main two are: Alpha thalassemia: when the body has a problem producing alpha globin Beta thalassemia : when the body has a problem producing beta globin When the gene that controls the production of either of these proteins is missing or mutated, it results in that type of thalassemia.

About Alpha Thalassemia Normally, each person has four genes for alpha globin. Silent alpha thalassemia carriers have no signs or symptoms of the disease, but are able to pass thalassemia on to their children.

Two missing or mutated genes is a condition called alpha thalassemia minor or having alpha thalassemia trait. Children with this condition may have red blood cells that are smaller than normal microcytosis and sometimes very slight anemia.

People with alpha thalassemia minor usually don't have any symptoms at all, but can pass thalassemia on to their children. The two abnormal genes can be on the same chromosome called the cis position or one on each chromosome called the trans position.

If two genes on the same chromosome are affected, the person can pass along a two-gene defect to his or her child. This situation is much more common in people of Asian descent.

Three missing or mutated genes is called hemoglobin H disease. Signs and symptoms will be moderate to severe. Four missing or mutated genes is a condition known as alpha thalassemia major or hydrops fetalis. This almost always leads to a fetus dying before delivery or a newborn baby dying shortly after birth.

However if this disease is suspected because of a history in the family, it can be diagnosed prenatally. Without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells. The low number of mature red blood cells leads to anemia and other associated health problems in people with beta thalassemia. Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern , which means both copies of the HBB gene in each cell have mutations.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sometimes, however, people with only one HBB gene mutation in each cell develop mild anemia.

These mildly affected people are said to have thalassemia minor. In a small percentage of families, the HBB gene mutation is inherited in an autosomal dominant manner. In these cases, one copy of the altered gene in each cell is sufficient to cause the signs and symptoms of beta thalassemia.

Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Beta thalassemia. From Genetics Home Reference. You are at risk for thalassemia if you have a family history of it. Thalassemia can affect both men and women. Certain ethnic groups are at greater risk:. Thalassemia can only be diagnosed with blood tests.

Doctors use several different types of blood tests to look for thalassemia. Some tests measure the number and size of red blood cells, or the amount of iron in the blood.

Others look at the hemoglobin within the red blood cells. DNA testing helps doctors identify which genes are missing or damaged. The only way to prevent an inherited condition, such as thalassemia, in your child is not to become pregnant.

Treatment for thalassemia depends on which type of thalassemia you have and the severity of your symptoms. If you have no or only mild symptoms, you may need little or no treatment. Treatment for moderate to severe forms of thalassemia often includes regular blood transfusions and folate supplements. Folate also called folic acid helps your body make healthy blood cells. Alpha thalassemia can sometimes be mistaken for low-iron anemia , and iron supplements may be recommended as a treatment.

But iron supplements have no effect on thalassemia. If you have many blood transfusions, too much iron may build up in your blood. If this happens, you will need chelation therapy to remove extra iron from your body. In the most severe cases, bone marrow or stem cell transplants may help by replacing damaged cells with healthy ones from a donor.

A donor is usually a relative such as a sibling. Key steps include:. If you or your partner knows you are a carrier for thalassemia, talk to your doctor or a genetic counselor before getting pregnant.

Certain tests may be able to show which type of thalassemia you are carrying. Once you are pregnant, prenatal testing can show whether or not your baby has thalassemia. March of Dimes: Thalassemia. This article was contributed by: familydoctor. This information provides a general overview and may not apply to everyone. Talk to your family doctor to find out if this information applies to you and to get more information on this subject.

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