• Français

Centre de recherche
Thursday, January 4 2024

Sickle-cell anemia: major progress after ten years of universal newborn screening in Québec

A new study by a CHU Sainte-Justine team has confirmed that Québec’s newborn blood screening program has improved pediatric management of sickle-cell anemia and reduced the severity of the chronic disease.

Since November 2013, all children born in a Montréal or Laval hospital have routinely been screened for sickle-cell anemia, a chronic blood disorder that can lead to serious or even fatal complications. This program was extended to all children born in the province as of April 2016. To mark the tenth anniversary of this initiative, a study led by CHU Sainte-Justine’s Dr. Yves Pastore has confirmed for the very first time that the measure has been effective in reducing the complications of the disease. 

The study, presented in December at the annual meeting of the American Society of Hematology, reveals an analysis of several hundred medical records of children aged 0 to 5 referred to the CHU Sainte-Justine Hematology Clinic between 2000 and 2019 showed a reduction in hospitalization rates and in emergency room visits among patients who had been screened. The program, which involves taking and analyzing a drop of blood from a newborn’s heel, has emerged as a key public health measure for preventing severe forms of the disease.

Sickle-cell anemia: a genetic disease with serious complications

Sickle-cell anemia, also known as sickle-cell disease, is the most common genetic disorder in the world, affecting around one in every 2,500 children in Canada. This blood disorder causes deformation of the red blood cells, preventing efficient oxygen transport to the organs. A common complication of the disease is vaso-occlusive crisis, which occurs when deformed blood cells build up in small blood vessels, blocking circulation and causing severe pain. “Without screening, people with sickle-cell anemia are likely to show up at the ER suffering from painful episodes, unexplained high fever and maybe even very severe infections,” explained Dr. Pastore. “In rare cases, children can even have strokes.” 

Asif, age 12, was born at CHU Sainte-Justine two years before routine screening was introduced, but was fortunately diagnosed at birth as his mother also has sickle-cell anemia. “When I received my son’s diagnosis, I cried a lot,” recalled his mother. “I was very, very afraid for him. But since we found out when he was born, the Hematology Clinic was able to get involved right away, and that’s made all the difference.” 

Early intervention improves outcomes

Since the program’s introduction, all children born in Québec with positive newborn screening tests have received care right away. The study highlights significant reductions in hospitalizations and emergency room visits. Children seen for the first time between January 1, 2000, and October 31, 2013 (i.e., before the introduction of routine screening), were twice as likely to have been hospitalized for any reason as those seen for the first time between November 1, 2013, and December 31, 2019. These striking results are equally impressive when looking only at care provided for vaso-occlusive crises and severe pain brought on by the disease. Children seen for the first time since the introduction of routine screening have been significantly less likely to visit the emergency room for vaso-occlusive crises. “Since implementing the program, hospitalization for pain crises has been reduced: survival without hospitalization has risen from 573 days to 1,320 days,” said Costa Kazadi, student and first author of the study.

“Newborn screening allows us to refer children to specialists quickly, rather than having to wait for the first visit to the ER to get a diagnosis,” said a delighted Dr. Pastore. “It means we can provide early preventive interventions from the very first months of life, including reinforced vaccination against infections, and the prescription of antibiotics and a drug, hydroxyurea, to prevent disease progression. It also enables us to inform parents about the care they need to provide and the warning signs to watch out for.” For Asif and his family, the boy’s early treatment has made it so most pain crises can now be managed at home with his loved ones.

For information

 Geneviève Martel
CHU Sainte-Justine
514 345-7707


The study was carried out by Costa Kazadi, in collaboration with Drs. Stéphanie Forté, Nancy Robitaille and Yves Pastore and with the statistical support of Thierry Ducruet. The analysis includes the medical records of all children who were referred to CHU Sainte-Justine’s Hematology Clinic for sickle cell anemia between January 1, 2000, and December 31, 2019, and were then followed for at least two years. Two groups were established for comparison: patients seen for the first time between January 1, 2000, and October 31, 2013 (i.e., before the introduction of the universal newborn screening program [n=253]), and those seen for the first time between November 1, 2013, and December 31, 2019 (i.e., after the introduction of the program [n=157]). This is the first study on the subject to be carried out on a Canadian cohort.

About this page
Updated on 1/4/2024
Created on 1/2/2024
Alert or send a suggestion

Grow Beyond our wildest dreams

With the support of donors like you, at the heart of the Grow Beyond campaign, we are leading healthcare teams towards the opportunities offered by science and new technologies, so that every child, no matter where in Quebec, has access to the unique expertise and know-how of CHU Sainte-Justine. Together, let's join forces for their future.

Grow Beyond with us.

Contact Us

514 345-4931


© 2006-2014 CHU Sainte-Justine.
All rights reserved.
Terms of Use, Confidentiality, Security


Les informations contenues dans le site « CHU Sainte-Justine » ne doivent pas être utilisées comme un substitut aux conseils d’un médecin dûment qualifié et autorisé ou d’un autre professionnel de la santé. Les informations fournies ici le sont à des fins exclusivement éducatives et informatives.

Consultez votre médecin si vous croyez être malade ou composez le 911 pour toute urgence médicale.

CHU Sainte-Justine