by Yael Rosenberg, RN
• Incidence and Carriers
• Resources and More
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.
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
There are reported cases of this genetic disorder affecting Jews of
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.
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
Resources and More
Cooley's Anemia Foundation
129-09 26th Avenue - #203
Flushing, NY 11354
fax: (718) 321-3340
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
Division of Genetics, Box 641
University of Rochester Medical Center
601 Elmwood Avenue
Rochester, New York 14642