The Alabama Department of Public Health has announced that newborn screening began for two additional treatable genetic disorders.
In a press release, ADPH says newborn screening can alert healthcare providers to the potential for a condition that is typically not apparent at birth. With a simple blood screen and treatment, most affected babies have the opportunity to avoid death and disability and grow up healthy and develop normally.
The new disorders added to Alabama’s newborn screening panel are described as follows:
X-linked Adrenoleukodystrophy (X-ALD) is a rare genetic disorder caused by a change in a single gene that affects males. X-ALD happens when certain fats cannot be broken down in the body. The fats build up and cause health problems including damage to the nervous system and adrenal glands. Possible treatments for X-ALD include supportive therapies (such as physical therapy), steroid treatment and stem cell transplants.
Adenosine Deaminase Deficiency for Severe Combined Immunodeficiency (ADA-SCID) is an inherited disorder that damages the immune system. Individuals with ADA-SCID lack all immune protection from bacteria, viruses and fungi. It can be deadly in childhood because of severe recurrent infections. Gene therapy, bone marrow transplantation or enzyme replacement therapy may be effective for treating ADA-SCID if started early.
Close coordination is needed for newborn screening follow-up. For these two conditions, the ADPH is partnering with the University of Alabama at Birmingham to evaluate and to confirm diagnosis, and ADPH provides information to healthcare providers and families for appropriate treatment.
The ADPH Bureau of Clinical Laboratories is the sole provider of blood analysis of newborn screening in Alabama. The Alabama Newborn Screening Program identifies 150-200 babies each year with a metabolic, endocrine, hematological or other congenital disorder. These babies usually look and act healthy at birth.
For additional information, please visit hrsa.gov/advisory-committees/heritable-disorders/rusp and alabamapublichealth.gov/newbornscreening.