Sephardi Disorders

Beta-thalassemia

Beta-thalassemia is caused by a reduced amount of the normal adult form of hemoglobin, hemoglobin A (HbA), which carries oxygen to the tissues in the body. Hemoglobin A consists of 2 types of globin chains, alpha and beta. Beta-thalassemia results when the beta-chains are non-functional or are present in reduced amounts. Beta-thalassemia can range in severity from severe anemia and hepatosplenomegaly in the first two years of life to a much milder anemia presenting later in life.

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.
Diagnosis:Diagnosis by a physician knowledgeable about the symptoms of this disorder and by testing of the Beta-thalassemia gene.
Inheritance:Autosomal recessive.
Carrier testing:Available by testing of the Beta-thalassemia gene.
Prenatal diagnosis:Genetic testing of the Beta-thalassemia gene. Available through genetic testing in couples with a previously affected child or to couples found to be at risk by carrier testing.

Technical Information on Beta-thalassemia

Additional Information:
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/