Thalassemia is a blood disorder inherited in families. In this disease the body makes an abnormal form of hemoglobin. Hemoglobin is the protein in the red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
The most severe form is ‘alpha thalassemia major’, which can cause stillbirth (death of the unborn baby during birth or the late stages of pregnancy).
Children born with thalessemia major (Cooley's anemia) are normal at birth, but develop severe anemia during the first year of life.
Other symptoms can include:
- Bone deformities in the face
- Growth failure
- Shortness of breath
- Yellow skin (jaundice)
Persons with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms.
Hemoglobin is made of two proteins: alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control the production of one of these proteins.
There are two main types of thalassemia:
- Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
- Beta thalassemia occurs when similar gene defects affect the production of the beta globin protein.
There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:
- Thalassemia major
- Thalassemia minor
A person must inherit the gene defect from both parents to develop thalassemia major.
Thalassemia minor occurs if a person receives the faulty gene from only one parent. Persons with this form of the disorder are carriers of the disease. Most of the time, they do not have symptoms. Beta thalassemia major is also called Cooley's anemia
Factors that increase the risk of thalassemia include:
- Family history of thalassemia. Thalassemia is passed from parents to children through mutated hemoglobin genes.
- Certain ancestry. Thalassemia occurs most often in people of Italian, Greek, Middle Eastern, Asian and African ancestry.
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.
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.
Less severe forms of thalassemia often do not shorten lifespan.
In most cases, thalassemia cannot be prevented