Scientific Background and Reference Sources
ACOG. (2007). ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. Obstet Gynecol, 109(1), 229-237. https://doi.org/10.1097/00006250-200701000-00055
ACOG. (2017). ACOG Committee Opinion 691: Carrier Screening for Genetic Conditions. Obstet Gynecol, 129, e41-e55. https://doi.org/10.1097/AOG.0000000000001952
ACOG. (2018). ACOG Publications. Obstetrics & Gynecology, 131(1). https://journals.lww.com/greenjournal/Fulltext/2018/01000/ACOG_Publications.31.aspx
ACOG. (2022). Hemoglobinopathies in Pregnancy. https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2022/08/hemoglobinopathies-in-pregnancy
APHL. (2015). Hemoglobinopathies: Current Practices for Screening, Confirmation and Follow-up. Association of Public Health Laboratories Retrieved from https://www.cdc.gov/ncbddd/sicklecell/documents/nbs_hemoglobinopathy-testing_122015.pdf
Benz Jr, E. J. (2023). Pathophysiology of thalassemia. https://www.uptodate.com/contents/pathophysiology-of-thalassemia
Benz Jr, E. J. (2024a). Classical thalassemia syndromes (genotypes and laboratory findings). In UpToDate. Waltham. MA.
Benz Jr, E. J. (2024b). Molecular pathology of the thalassemic syndromes. https://www.uptodate.com/contents/molecular-genetics-of-the-thalassemia-syndromes \
Benz Jr, E. J., & Angelucci, E. (2024, April 5). Clinical manifestations and diagnosis of the thalassemias. https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-the-thalassemias
Chen, D., Shen, X., Wu, C., Xu, Y., Ding, C., Zhang, G., Xu, Y., & Zhou, C. (2020). Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening. Journal of assisted reproduction and genetics, 37(3), 549-557. https://doi.org/10.1007/s10815-020-01732-7
Chen, D., Shen, X., Xu, Y., Ding, C., Ye, Q., Zhong, Y., Xu, Y., & Zhou, C. (2021). Successful four-factor preimplantation genetic testing: α- and β-thalassemia, human leukocyte antigen typing, and aneuploidy screening. Systems Biology in Reproductive Medicine, 67(2), 151-159. https://doi.org/10.1080/19396368.2020.1832158
Dan, M., Gutu, B.-I., Severin, E., & Tanase, V.-G. (2023). Innovative and Needs-led research on β-thalassemia treatment methods. Frontiers in Hematology, 1. https://doi.org/10.3389/frhem.2022.1085952
Fu, Y., Shen, X., Chen, D., Wang, Z., & Zhou, C. (2019). Multiple displacement amplification as the first step can increase the diagnostic efficiency of preimplantation genetic testing for monogenic disease for β-thalassemia. J Obstet Gynaecol Res, 45(8), 1515-1521. https://doi.org/10.1111/jog.14003
Gregg, A. R., Aarabi, M., Klugman, S., Leach, N. T., Bashford, M. T., Goldwaser, T., Chen, E., Sparks, T. N., Reddi, H. V., Rajkovic, A., & Dungan, J. S. (2021). Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med, 23(10), 1793-1806. https://doi.org/10.1038/s41436-021-01203-z
He, J., Song, W., Yang, J., Lu, S., Yuan, Y., Guo, J., Zhang, J., Ye, K., Yang, F., Long, F., Peng, Z., Yu, H., Cheng, L., & Zhu, B. (2017). Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China. Genet Med, 19(9), 1022-1031. https://doi.org/10.1038/gim.2016.218
He, S., Li, J., Li, D. M., Yi, S., Lu, X., Luo, Y., Liang, Y., Feng, C., Chen, B., Zheng, C., & Qiu, X. (2018). Molecular characterization of alpha- and beta-thalassemia in the Yulin region of Southern China. Gene, 655, 61-64. https://doi.org/10.1016/j.gene.2018.02.058
Langlois, S., Ford, J. C., Chitayat, D., Chitayat, D., Désilets, V. A., Farrell, S. A., Geraghty, M., Langlois, S., Nelson, T., Nikkel, S. M., Shugar, A., Skidmore, D., Allen, V. M., Audibert, F., Blight, C., Désilets, V. A., Gagnon, A., Johnson, J.-A., Langlois, S., . . . Wyatt, P. (2008). Carrier Screening for Thalassemia and Hemoglobinopathies in Canada. Journal of Obstetrics and Gynaecology Canada, 30(10), 950-959. https://doi.org/10.1016/s1701-2163(16)32975-9
Martin, A., & Thompson, A. A. (2013). Thalassemias. Pediatr Clin North Am, 60(6), 1383-1391. https://doi.org/10.1016/j.pcl.2013.08.008
NHS. (2021). SCT Screening: handbook for antenatal laboratories. https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/1 039978/Referral_guidelines_for_antenatal_screening_specimens_final.pdf
Nosheen, A., Ahmad, H., Qayum, I., Siddiqui, N., Abbasi, F. M., & Iqbal, M. S. (2015). Premarital genetic screening for beta thalassemia carrier status of indexed families using HbA2 electrophoresis. J Pak Med Assoc, 65(10), 1047-1049.
PHE. (2022). Sickle cell and thalassaemia screening: commission and provide. https://www.gov.uk/government/collections/sickle-cell-and-thalassaemia-screening-commission-and-provide
Ryan, K., Bain, B. J., Worthington, D., James, J., Plews, D., Mason, A., Roper, D., Rees, D. C., de la Salle, B., & Streetly, A. (2010). Significant haemoglobinopathies: guidelines for screening and diagnosis. Br J Haematol, 149(1), 35-49. https://doi.org/10.1111/j.1365-2141.2009.08054.x
Satirapod, C., Sukprasert, M., Panthan, B., Charoenyingwattana, A., Chitayanan, P., Chantratita, W., Choktanasiri, W., Trachoo, O., & Hongeng, S. (2019). Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center. PLoS One, 14(11), e0225457. https://doi.org/10.1371/journal.pone.0225457
Shook, L. M., Haygood, D., & Quinn, C. T. (2020). Clinical Utility of Confirmatory Genetic Testing to Differentiate Sickle Cell Trait from Sickle-beta(+)-Thalassemia by Newborn Screening. Int J Neonatal Screen, 6(1). https://doi.org/10.3390/ijns6010007
Steinberg, M. H. (1999). Management of sickle cell disease. N Engl J Med, 340(13), 1021-1030. https://www.nejm.org/doi/10.1056/NEJM199904013401307
Steinberg, M. H. (2024). Structure and function of normal hemoglobins. https://www.uptodate.com/contents/structure-and-function-of-normal-hemoglobins
TIF. (2021). 2021 GUIDELINES FOR THE MANAGEMENT OF TRANSFUSION DEPENDENT THALASSAEMIA (TDT). https://www.thalassemia.org/boduw/wp-content/uploads/2021/06/TIF-2021-Guidelines-for-Mgmt-of-TDT.pdf
Tubman, V. N., Fung, E. B., Vogiatzi, M., Thompson, A. A., Rogers, Z. R., Neufeld, E. J., & Kwiatkowski, J. L. (2015). Guidelines for the Standard Monitoring of Patients with Thalassemia: Report of the Thalassemia Longitudinal Cohort. J Pediatr Hematol Oncol, 37(3), e162-169. https://doi.org/10.1097/mph.0000000000000307
Yates, A. (2023). Prenatal screening and testing for hemoglobinopathy. https://www.uptodate.com/contents/prenatal-screening-and-testing-for-hemoglobinopathy
Zhang, H., Li, C., Li, J., Hou, S., Chen, D., Yan, H., Chen, S., Liu, S., Yin, Z., Yang, X., Tan, J., Huang, X., Zhang, L., Fang, J., Zhang, C., Li, W., Guo, J., & Lei, D. (2019). Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China. Journal of clinical laboratory analysis, 33(4), e22845-e22845. https://doi.org/10.1002/jcla.22845
Specialty Matched Consultant Advisory Panel review 7/2019
Medical Director review 7/2019
Specialty Matched Consultant Advisory Panel review 7/2020
Medical Director review 7/2020
Specialty Matched Consultant Advisory Panel review 7/2021
Medical Director review 7/2021
Medical Director review 7/2022
Medical Director review 7/2023
Medical Director review 7/2024