Alabama begins 2 new newborn screenings: What’s being offered and why?

Alabama begins 2 new newborn screenings: What’s being offered and why?

Alabama is now screenings newborns for two additional – and treatable – genetic disorders.

According to the Alabama Department of Public Health, the screenings began March 13 to alert healthcare providers to the potential for conditions that are not typically apparent at birth. However, with blood screens and treatments, most affected babies have the opportunity to avoid death and disability and develop normally, ADPH said.

The two new newborn screenings are for:

  • 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 and 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 and 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.

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Infants are also screened for some 50 conditions such as hypothyroidism, congenital adrenal hyperplasia, galactosemia, biotinidase deficiency, cystic fibrosis, sickle cell anemia and related hemoglobinopathies, amino acid disorders, fatty acid disorders, and organic acid disorders.

ADPH Bureau of Clinical Laboratories is the sole provider of blood analysis of newborns screenings in the state. The program identified 150-200 babies each year with metabolic, endocrine, hematological or other congenital disorder.