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Beta Thalassemia
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Description
Beta Thalassemia also known as Cooley’s Anemia, is an autosomal
recessive inherited disorder that is caused by a mutation of the beta
hemoglobin chain. Hemoglobin contains two chains, alpha and beta
globins. This disorder involves the lack of or diminished production of
the beta chain of hemoglobin whose principal task is to carry oxygen in
the blood. Hemoglobin combines with oxygen and then conveys it from the
lungs to the cells of the body. With lack or insufficient hemoglobin,
the cells of the body do not get the oxygen they need as energy for all
the chemical reactions required for sustaining life.
Symptoms
At birth the infant with Beta Thalassemia has no symptoms. This
is because the fetal hemoglobin still predominates. However within a few
months symptoms begin and get progressively worse.
Infants develop life threatening anemia and exhibit pale or jaundiced
(yellow) skin, shortness of breath, listlessness, poor appetite,
distended abdomen with spleen and liver enlargement, dark urine, stunted
growth and deformed facial and skeletal bones.
Incidence and Carriers
Disease frequency:
Approximately 1 in 3,600 for individuals of Mediterranean descent
(mainly Greek and Italian).
Carrier frequency: Up to 1 in 30 in individuals of Mediterranean descent
(Greek and Italian mainly), approximately 1 in 30 in the general
population.
There are reported cases of this genetic disorder affecting Jews of
Ashkenazi decent.
Treatment
The most common treatment is
transfusion of red blood cells. To prevent the complication of multiple
transfusion namely iron overload, patients undergo chelation therapy
which binds the iron to remove it from the body.
Currently scientists are working on genetic therapy as a possible cure
for thalassemia. What is involved is placing a normal beta globin gene
into the affected individual’s stem cells.
Another venue that is now being researched is utilization of drugs or
other methods to stimulate fetal hemoglobin that would replace the
absent adult hemoglobin.
Testing
Prenatal testing utilizing CVS (chorionic villus
sampling) or amniocentesis of the genetic mutation in the fetus.
Genetic testing via a blood test can detect if a person is a carrier.
Resources and More
Cooley's Anemia Foundation
129-09 26th Avenue - #203
Flushing, NY 11354
(800) 522-7222
(718) 321-CURE
fax: (718) 321-3340
email: info@cooleyanemia.org
http://www.thalassemia.org/
Northern California Comprehensive Thalassemia Center
Children's Hospital Oakland
747 52nd Street Oakland, CA 94609
Phone: 510.428.3168 or GeneHelp 510.540.2972 or 510.540.3295
Web Site: www.thalassemia.com
Division of Genetics, Box 641
University of Rochester Medical Center
601 Elmwood Avenue
Rochester, New York 14642
(716) 275-4602
Website:
www.urmc.rochester.edu/genetics
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