A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records

Abstract Background Paroxysmal Nocturnal Haemoglobinuria (PNH) is an ultra-rare, acquired disorder that is challenging to diagnose due to varied symptoms, heterogeneous patient presentations, and lack of awareness among healthcare professionals. This leads to frequent misdiagnosis and delays in diag...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Amanda Worker, Hadley Mahon, Jack Sams, Freya Boardman-Pretty, Elena Marchini, Rand Dubis, Alan Warren, Jez Stockdale, Jyothika Kumar, Elizabeth Varones, Daniel Ollerenshaw, Calum Grant, Peter Fish, Richard J. Kelly
Format:	Article
Language:	English
Published:	BMC 2024-10-01
Subjects:	Paroxysmal Nocturnal Haemoglobinuria (PNH) Machine learning Rare disease UK electronic health records Primary care
Online Access:	https://doi.org/10.1186/s13023-024-03406-4