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scientific articles

Newborn Blood Spot Screening for Galactosemia, Tyrosiemia Type I, Homocystinuria, Sickle Cell Anemia, Sickle Cell/Beta-Thalassemia, Sickle Cell/Hemoglobin C Disease and Severe Combined Immunodeficiency

key information

source: Institute of Health Economics

year: 2016

authors: Arianna Waye, Mohamed El Shayeb, Bing Guo, Paula Corabian, Charles Yan, Ilke Akpinar, Anderson Chuck, Dagmara Chojecki


Existing evidence reviews on newborn blood spot screening (for example, health technology assessments, systematic reviews, literature synthesis) are outdated and/or have not assessed the long-term health consequences or health economic impact on the health system. Further, the transferability of the evidence base to the Alberta setting is uncertain, as the value in terms of both health outcomes and costs are ultimately dependent on local epidemiology, clinical practice, system capacity, and costs. Accordingly, there was a need to conduct an updated evidence assessment contextualized to the Alberta setting.

There are seven conditions that are not currently primary targets for screening or secondary conditions identified via screening in Alberta that are widely represented in or being considered for screening programs in many jurisdictions across North America: galactosemia (GALT); tyrosinemia type I (TYRI); homocystinuria (HCY); sickle cell anemia (Hb SS), sickle cell/beta-thalassemia (Hb S/β-thal), and sickle cell/hemoglobin C disease (Hb SC) (hemoglobinopathies collectively referred to here as sickle cell disease [SCD]); and severe combined immunodeficiency (SCID). As such, this evidence assessment focuses on these seven conditions and the associated tests used to identify them, to assess the potential health economic impact of adding any or all of these conditions to the Alberta Newborn Metabolic Screening (NMS) Program.

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