Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of
Sickle cell disease
Mediterranean anemia; Cooley’s anemia; Beta thalassemia; Alpha thalassemia
Causes, incidence, and risk factors
Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control 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 production of the beta globin protein.
Alpha thalassemias occur most commonly in persons from southeast Asia, the Middle East, China, and in those of African descent.
Beta thalassemias occur in persons of Mediterranean origin, and to a lesser extent, Chinese, other Asians, and African Americans.
There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:
You must inherit the defective gene from both parents to develop thalassemia major.
Thalassemia minor occurs if you receive the defective gene from only one parent. Persons with this form of the disorder are carriers of the disease and usually do not have symptoms.
Beta thalassemia major is also called Cooley’s anemia.
Risk factors for thalassemia include:
Asian, Chinese, Mediterranean, or African American ethnicity
Family history of the disorder
The most severe form of alpha thalassemia major causes
Children born with thalessemia major (Cooley’s anemia) are normal at birth, but develop severe
Other symptoms can include:
Bone deformities in the face
Shortness of breath
- Yellow skin (jaundice)
Persons with the minor form of alpha and beta thalassemia have small red blood cells (which are identified by looking at their red blood cells under a microscope), but no symptoms.
Signs and tests
A physical exam may reveal a swollen (enlarged) spleen.
A blood sample will be taken and sent to a laboratory for examination.
Red blood cells will appear small and abnormally shaped when looked at under a microscope.
A complete blood count (CBC) reveals anemia.
A test called
hemoglobin electrophoresisshows the presence of an abnormal form of hemoglobin.
A test called mutational analysis can help detect alpha thalassemia that cannot be seen with
Treatment for thalassemia major often involves regular blood transfusions and
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.
Persons who receive significant numbers of blood transfusions need a treatment called chelation therapy to remove excess iron from the body.
Severe thalassemia can cause early death due to
Less severe forms of thalassemia usually do not shorten lifespan.
Genetic counseling and prenatal screening may help people with a family history of this condition who are planning to have children.
Untreated, thalassemia major leads to heart failure and liver problems, and makes a person more likely to develop infections.
Blood transfusions can help control some symptoms. However, they may result in too much iron, which can damage the heart, liver, and endocrine system.
Calling your health care provider
Call for an appointment with your health care provider if:
You or your child has symptoms of thalassemia
You are being treated for the disorder and new symptoms develop