Thalassemia

Thalassemia is a blood disorder passed down through families (inherited) in

which the body makes an abnormal form of hemoglobin. Hemoglobin is the
protein in red blood cells that carries oxygen. The disorder results in large
numbers of red blood cells being destroyed, which leads to anemia.

Causes
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 often in persons from Southeast Asia, the
Middle East, China, and in those of African descent.
Beta thalassemias occur most often in persons of Mediterranean origin. To
a lesser extent, Chinese, other Asians, and African Americans can be
affected.
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
You must inherit the gene defect from both parents to develop
thalassemia major.
Thalassemia minor occurs if you receive 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.

Risk factors for thalassemia include:

Asian, Chinese, Mediterranean, or African American ethnicity

Family history of the disorder

Symptoms
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 thalessemia major (Cooley's anemia) are normal at
birth, but develop severeanemia during the first year of life.
Other symptoms can include:

Bone deformities in the face

Fatigue
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.

Exams and Tests

Your doctor will do a physical exam to look for an enlarged spleen.
A blood sample will be sent to a laboratory to be tested.

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 electrophoresis shows the presence of an
abnormal form of hemoglobin.
A test called mutational analysis can help detect alpha thalassemia.

Treatment
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.

Persons who receive a lot of blood transfusions need a treatment called

chelation therapy. This is done to remove excess iron from the body.
A bone marrow transplant may help treat the disease in some patients,
especially children.

Outlook (Prognosis)
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.
You may want to seek genetic counseling if you have a family history of
the condition and are thinking of having children.

Possible Complications
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.

When to Contact a Medical Professional

Call 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

Alternative Names
Mediterranean anemia; Cooley's anemia; Beta thalassemia; Alpha
thalassemia

References
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RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of
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