Alpha Thalassaemia genetic testing

Milverton, J, Vogan, A, Parsons, J, Carter, D, Kessels, S, Schubert, C, Merlin, T
Record ID 32018000547
Original Title: Application 1531
Authors' results and conclusions: The clinical evaluation suggested that, relative to a couple's risk of carrrying Hb Bart's fetus being determined based on screening tests alone, genetic deletion testing for alpha thalassaemia has non-inferior safety and superior effectiveness (despite limited, poor-quality available evidence). Deletion testing by Gap-PCR is of inferior effectiveness to comprehensive deletion testing +/-sequencing.
Project Status: Completed
Year Published: 2019
English language abstract: An English language summary is available
Publication Type: Other
Country: Australia
MeSH Terms
  • alpha-Thalassemia
  • Genetic Testing
  • Genotype
  • Australia
Organisation Name: Adelaide Health Technology Assessment
Contact Address: School of Public Health, Mail Drop 545, University of Adelaide, Adelaide SA 5005, AUSTRALIA, Tel: +61 8 8313 4617
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Copyright: Adelaide Health Technology Assessment (AHTA)
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