References
- Taher AT, Musallam KM, Cappellini MD. β-Thalassemias. N Engl J Med. 2021;384(8):727–743. doi:10.1056/NEJMra2021838.
- Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(database issue):D1063–D1069. https://globin.bx.psu.edu/hbvar/hbvar.html. doi:10.1093/nar/gkt911.
- Kountouris P, Lederer CW, Fanis P, et al. IthaGenes: an interactive database for haemoglobin variations and epidemiology. PLoS One. 2014;9(7):e103020. https://ithanet.eu/db/ithagenes. doi:10.1371/journal.pone.0103020.
- Newborn Screening Ontario. (https://www.newbornscreening.on.ca).
- Das S, Mashon RS. Coinheritance of Hb D-Punjab and β-thalassemia: diagnosis and implications in prenatal diagnosis. Hemoglobin. 2015;39(2):138–140. doi:10.3109/03630269.2015.1004335.
- Baserga SJ, Benz EJ.Jr. Nonsense mutations in the human β-globin gene affect mRNA metabolism. Proc Natl Acad Sci U S A. 1988;85(7):2056–2060. doi:10.1073/pnas.85.7.2056.
- Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet. 1999;8(10):1893–1900. doi:10.1093/hmg/8.10.1893.
- Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. doi:10.1038/gim.2015.30.
- Kountouris P, Stephanou C, Lederer CW, et al. Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Hum Mutat. 2022;43(8):1089–1096. doi:10.1002/humu.24280.