Real-world insights from a cohort of approximately 2000 individuals who were analysed using a freely available next-generation sequencing anaemia screening programme

Jorune Balciuniene; Saliha Yilmaz; Satheesh Chonat; Rachael F Grace; Gerald A Soff; Yaddanapudi Ravindranath; Bertil Glader; Paola Bianchi; Bryan McGee; Archana M Agarwal; Geetha Puthenveetil

doi:10.1111/bjh.20049

Real-world insights from a cohort of approximately 2000 individuals who were analysed using a freely available next-generation sequencing anaemia screening programme

Br J Haematol. 2025 Jun;206(6):1853-1856. doi: 10.1111/bjh.20049. Epub 2025 Mar 9.

Authors

Affiliations

¹ Revvity Omics, Clinical Services, Revvity, Inc., Pittsburgh, Pennsylvania, USA.
² Agios Pharmaceuticals, Inc., Cambridge, Massachusetts, USA.
³ Department of Pediatrics, Emory University School of Medicine, and Aflac Cancer and Blood Disorders Center at Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
⁴ Department of Pediatrics, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts, USA.
⁵ Department of Hematology, Sylvester Comprehensive Cancer Center, University of Miami Health System, Miami, Florida, USA.
⁶ Department of Pediatrics, Wayne State University School of Medicine, Detroit, Michigan, USA.
⁷ Pediatric Hematology/Oncology, Stanford University School of Medicine and Lucile Packard Children's Hospital, Palo Alto, California, USA.
⁸ UOC Ematologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
⁹ Department of Pathology, University of Utah/ARUP Laboratories, Salt Lake City, Utah, USA.
¹⁰ Department of Pediatric Hematology, Children's Hospital of Orange County, Orange, California, USA.

Abstract

Data from a large cohort of individuals referred for NGS testing evaluate the utility of next-generation sequencing in clinical practice for diagnosing hereditary haemolytic anaemias.

Publication types

Letter

MeSH terms

Adult
Anemia, Hemolytic, Congenital* / diagnosis
Anemia, Hemolytic, Congenital* / genetics
Cohort Studies
Female
Genetic Testing* / methods
High-Throughput Nucleotide Sequencing* / methods
Humans
Male
Middle Aged

Grants and funding

Agios Pharmaceuticals, Inc.