Alpha Thalassemia
What is alpha thalassemia?
Thalassemia is an inherited disorder that affects the production of normal
hemoglobin (a type of protein in red blood cells that carries oxygen to
the tissues of the body). Thalassemia includes a number of different forms
of anemia. The severity and type of anemia depends upon the number of
genes that are affected.
What causes alpha thalassemia?Alpha thalassemia is caused by mutations in the alpha chain of
the hemoglobin molecule. Normally, there are two alpha chain genes located
on each #16 chromosome, for a total of 4. The alpha chain is an important
component of fetal hemoglobin (which is usually made before birth) and
hemoglobin A and hemoglobin A2 (which are present after birth). How these
genes are altered determines the specific type of alpha thalassemia in a
child:
- alpha thalassemia major - all four alpha chain genes
are deleted, which is so severe that death can occur in utero (prior
to birth).
- alpha thalassemia carrier - two alpha chain genes are
deleted, either:
- both from the same #16 chromosome, called a "cis deletion"
- one from both #16 chromosomes, called a "trans deletion"
When parents are carriers of the cis deletion, there is a one
in four, or 25 percent, chance with each pregnancy, to have a
baby with alpha thal major. Carriers of the cis deletion versus
the trans deletion can be distinguished by DNA analysis only.
DNA testing is usually done from a blood sample, to look at the
alpha chain genes on each #16 chromosome, to determine which are
deleted.
- hemoglobin H disease - three alpha chain genes are deleted.
Hemoglobin H disease occurs when a person has only one functioning alpha
chain gene, resulting in a hemolytic anemia that can worsen with febrile
illness or exposure to certain drugs, chemicals, or infectious agents.
Persons with hemoglobin H disease are at increased risk to have a child
with alpha thal major, since they carry one #16 chromosome with an alpha
chain two gene deletion (cis deletion).
- silent alpha thalassemia carrier - one alpha chain gene is
deleted (the other three are normal). Blood tests are usually normal
and the only way to confirm a silent carrier is by DNA studies.
How is alpha thalassemia diagnosed?The frequency of carriers for alpha thal is about one in 30 in
persons who are southeastern Asian or Chinese. The frequency in other
populations has not been specifically studied, but is estimated at one in
300. Carrier status can be determined by:
- complete blood count (CBC) - a measurement of size, number,
and maturity of different blood cells in a specific volume of blood.
- hemoglobin electrophoresis with A2 and F quantitation - a lab
procedure that differentiates the types of hemoglobin present.
- FEP (free-erythrocyte protoporphyrin) and ferritin - to
exclude iron deficiency anemia.
All of these studies can be performed from a single blood sample.
Prenatal diagnosis is determined from CVS (chorionic villus sampling) or
amniocentesis.
Treatment for alpha thalassemia:Specific treatment for alpha thalassemia will be determined by
your child's physician based on:
- your child's age, overall health, and medical history
- extent of the disease
- your child's tolerance for specific medications, procedures, or
therapies
- expectations for the course of the disease
- your opinion or preference
Treatment for alpha thalassemia may include:
- daily doses of folic acid
- blood transfusions (as needed)
- surgical removal of the spleen (if necessary)
More Information
Schneider Children's
Hospital Division of Hematology/Oncology
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