Newborn screening now tests for sickle cell disease

EDMONTON – All babies in the province are now eligible for routine testing for sickle cell disease following an expansion to Alberta’s Newborn Metabolic Screening (NMS) program.

Sickle cell disease causes red blood cells to have a crescent moon or sickle shape and become trapped in blood vessels, causing pain, damage to tissue and premature breakdown of the red blood cells. Although sickle cell disease occurs in all ethnic groups, it is more common in people of African, Mediterranean, Middle Eastern and Asian descent. In some groups, it can occur in as many as one in 400 people.

“Newborn screening for sickle cell disease has been shown to reduce early deaths in children with this condition,” says Dr. Nicola Wright, pediatric hematologist and immunologist at the Alberta Children’s Hospital. “It reduces the occurrence of potentially life-threatening bacterial infections by more than 80 per cent. With diagnosis in the neonatal period, parents can be educated early, reducing the incidence and severity of complications of sickle cell disease in the early childhood years. I’m pleased to announce the expansion of testing on this, World Sickle Cell Day.”

Until recently, Alberta babies have been screened for 17 conditions through the NMS program, which works to prevent health problems, improve newborn health and save lives through early diagnosis and treatment of screened conditions.

Following a $2-million investment by Alberta Health Services (AHS), and through a collaborative partnership between AHS, Alberta Public Laboratories (APL), Alberta Health and other key stakeholders, the screening panel has been expanded to include sickle cell disease as well as three other conditions. (Visit ahs.ca/newbornscreening for a complete list of screened conditions.)

“The significant investment of resources in newborn screening to expand services will enhance the quality of the newborn screening pathway,” says Dr. Carolyn O’Hara, Chief Medical Laboratory Officer with APL. “This will allow better health outcomes for Albertans with the screened conditions.”

Newborn blood spot screening begins within 24 to 48 hours of a child’s birth when a few drops of blood are collected from a heel poke and tested for certain treatable conditions. The blood is then sent to the APL lab at the University of Alberta Hospital in Edmonton – the only testing site in Alberta for newborn metabolic screening in the province – and analyzed for hidden conditions that are present at birth. If certain markers are found, the program notifies the parents and physicians so the baby can receive immediate attention.

Screening through the NMS Program is offered free of charge throughout the province. It’s best for testing to be done at the hospital prior to going home, when a baby is between 24 and 72 hours old. But it can also be done at a home or clinic visit, or at a lab in the community.

“Newborn blood spot screening is the best way to find out if a baby has a certain condition that parents, their doctor or midwife might not be aware of,” says Dr. Huiming Yang, Provincial Medical Officer of Health with Healthy Living and Medical Director of Screening Programs.

“When we find conditions like sickle cell disease early, treatment can begin sooner. This has a positive impact on babies and their families, as we are able to improve the health of newborns by preventing potential health problems and even save lives.”

Alberta Health Services is the provincial health authority responsible for planning and delivering health supports and services for more than four million adults and children living in Alberta. Its mission is to provide a patient-focused, quality health system that is accessible and sustainable for all Albertans.

Alberta Public Laboratories is a fully owned subsidiary of Alberta Health Services and is responsible for laboratory services across the province.