Rapid diagnosis of hereditary haemolytic anaemias using automated rheoscopy and supervised machine learning

Moura, Pedro L.; Dobbe, Johannes G.G.; Streekstra, Geert J.; Rab, Minke A.E.; Veldthuis, Martijn; Fermo, Elisa; van Wijk, Richard; van Zwieten, Rob; Bianchi, Paola; Toye, Ashley M.; Satchwell, Timothy J.

Abstract

Haemolytic anaemias arise when red blood cell (RBC) integrity is compromised, eventually resulting in premature clearance or lysis and leading to anaemia when these effects cannot be sufficiently compensated by the capacity of the bone marrow to produce new cells. Hereditary anaemia occurs as a consequence of genetic mutation (e.g. affecting membrane complex or cytoskeletal proteins, haemoglobin or metabolic enzymes), and diagnosing affected patients is a complex process since, given the wide variety of possible genetic causes, multiple examinations must be performed and an unambiguous result is usually reached only after DNA sequencing. Furthermore, phenotypic severity can vary widely not just among individuals with different mutations but also among individuals suffering from the same mutation, thereby complicating diagnosis.

• Journal Article Type: Letter
• Online Publication Date: Jul 5, 2020
• Publication Date: Aug 17, 2020
• Deposit Date: Jul 11, 2024
• Publicly Available Date: Jul 12, 2024
• Journal: British Journal of Haematology
• Print ISSN: 0007-1048
• Electronic ISSN: 1365-2141
• Publisher: Wiley
• Peer Reviewed: Peer Reviewed
• Volume: 190
• Issue: 4
• Pages: e250-e255
• DOI: https://doi.org/10.1111/bjh.16868
• Public URL: https://uwe-repository.worktribe.com/output/12120179