Thalassemia

Thalassemia
A Hemoglobinopathy Disorder

Save Babies Through Screening Foundation is comprised of volunteers. Some have children who were helped by newborn screening, and some have children who have died, or suffered brain damage. For many of the Foundation's volunteers, joy comes from knowing that your child was saved. Many hours of hard work have been done to help children, maybe even yours. Please let us hear from you.

What is it?
Thalassemia is an inherited blood disorder that is caused by a malfunction of red blood cells in their ability to properly carry oxygen to the body.

Inheritance and Frequency
The gene defect for Thalassemia is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene usually emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.

Studies conducted since 1979 show that 1 of every 250,000 births will have Thalassemia.

Signs & Symptoms
Most children with Thalassemia appear healthy at birth, but may become pale, feed poorly, and gradually develop jaundice within the first few years of life.

Long Term Effects
If not treated, Thalassemia will cause severe anemia, failure to grow properly, and death.

Treatment
Thalassemia is treated with medication and blood transfusions.

History

Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter the state of your residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

Thalassemia - Cooley's Anemia Foundation
Thalassemia - GeneReviews
Thalassemia - Genetics Home Reference
Thalassemia - OMIM
Ethnicity and Screening for Sickle Cell/Thalassaemia book by Simon Dyson (May, 2005)

Support Groups

Family Village - Thalassemia

Sickle Cell & Thalassemia Support Group of London
East London

MUMS - National Parent-to-Parent Network

HOME | ABOUT US | PRESS RELEASES | DONATE NOW | VOLUNTEER NOW

Contact Save Babies Through Screening for questions about the content of this site or
the Webmaster for questions about technical issues related to this site.
Terms of use for this site.

Revised 01/07/2007