Why does thalassemia occur

If a person received an alpha thalassemia trait from her mother and the normal alpha parts from her father, she would have alpha thalassemia trait also called alpha thalassemia minor. Having a thalassemia trait means that you may not have any symptoms, but you might pass that trait on to your children and increase their risk for having thalassemia.

People with moderate and severe forms of thalassemia usually find out about their condition in childhood, since they have symptoms of severe anemia early in life. People with less severe forms of thalassemia may only find out because they are having symptoms of anemia, or maybe because a doctor finds anemia on a routine blood test or a test done for another reason.

Because thalassemias are inherited, the condition sometimes runs in families. Some people find out about their thalassemia because they have relatives with a similar condition. People who have family members from certain parts of the world have a higher risk for having thalassemia. Traits for thalassemia are more common in people from Mediterranean countries, like Greece and Turkey, and in people from Asia, Africa, and the Middle East.

If you have anemia and you also have family members from these areas, your doctor might test your blood further to find out if you have thalassemia. Because thalassemia is passed from parents to children, it is very hard to prevent.

Skip directly to site content Skip directly to page options Skip directly to A-Z link. Section Navigation.

The most severe form of alpha thalassemia major causes stillbirth death of the unborn baby during birth or the late stages of pregnancy. Children born with beta thalassemia major Cooley anemia are normal at birth, but develop severe anemia during the first year of life. People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms.

Treatment for thalassemia major often involves regular blood transfusions and folate supplements. If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful. People who receive a lot of blood transfusions need a treatment called chelation therapy. This is done to remove excess iron from the body.

Severe thalassemia can cause early death between ages 20 and 30 due to heart failure. Getting regular blood transfusions and therapy to remove iron from the body helps improve the outcome. You may want to seek genetic counseling if you have a family history of the condition and are thinking of having children. Untreated, thalassemia major leads to heart failure and liver problems.

It also makes a person more likely to develop infections. Blood transfusions can help control some symptoms, but carry a risk of side effects from too much iron. Cappellini MD. The thalassemias. Goldman-Cecil Medicine. Philadelphia, PA: Elsevier; chap Chapin J, Giardina PJ. Thalassemia syndromes. Hematology: Basic Principles and Practice.

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. Description Beta thalassemia is a blood disorder that reduces the production of hemoglobin.

Frequency Beta thalassemia is a fairly common blood disorder worldwide. Causes Mutations in the HBB gene cause beta thalassemia.

Learn more about the gene associated with Beta thalassemia HBB. Inheritance 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. Research Studies from ClinicalTrials.

A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population. Blood Cells Mol Dis. Epub Apr Genet Med. Orphanet J Rare Dis. Epub May N Engl J Med.