Beta Thalassemia - Jewish Genetic Disease

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
Website: 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