Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data.

Journal: Clinical chemistry
PMID:

Abstract

BACKGROUND: Hemoglobinopathies, the most common inherited blood disorder, are frequently underdiagnosed. Early identification of carriers is important for genetic counseling of couples at risk. The aim of this study was to develop and validate a novel machine learning model on a multicenter data set, covering a wide spectrum of hemoglobinopathies based on routine complete blood count (CBC) testing.

Authors

  • Anoeska Schipper
  • Matthieu Rutten
    From the Diagnostic Image Analysis Group, Radboud University Medical Center, Geert Groteplein 10, Nijmegen 6500 HB, the Netherlands (K.M., E.T.S., S.S., C.M.S., B.v.G.); Department of Radiology, Bernhoven Hospital, Uden, the Netherlands (H.S.); Department of Radiology, Jeroen Bosch Hospital, 's-Hertogenbosch, the Netherlands (A.J.G.K., M.B.J.M.K., T.S., M.R.); Department of Radiology, Meander Medisch Centrum, Amersfoort, the Netherlands (C.M.S.); and Thirona, Nijmegen, the Netherlands (R.H.H.M.P., A.M., J.M.).
  • Adriaan van Gammeren
    Laboratory of Clinical Chemistry and Laboratory Medicine, Amphia Hospital, Breda, the Netherlands.
  • Cornelis L Harteveld
    Department of Clinical Genetics, Laboratory for Genome Diagnostics, Leiden University Medical Center, Leiden, the Netherlands.
  • Eloísa Urrechaga
    CORE Laboratory, Hospital Galdakao-Usansolo, Galdakao, Vizcaya, Spain.
  • Floor Weerkamp
    Laboratory of Clinical Chemistry, Maasstad Hospital, Rotterdam, the Netherlands.
  • Gijs den Besten
    Laboratory of Clinical Chemistry and Laboratory Medicine, Isala Hospital, Zwolle, the Netherlands.
  • Johannes Krabbe
    Laboratory of Clinical Chemistry and Hematology, Medisch Spectrum Twente/Medlon BV, Enschede, the Netherlands.
  • Jennichjen Slomp
    Laboratory of Clinical Chemistry and Hematology, Medisch Spectrum Twente/Medlon BV, Enschede, the Netherlands.
  • Lise Schoonen
    Laboratory of Clinical Chemistry, Maasstad Hospital, Rotterdam, the Netherlands.
  • Maarten Broeren
    Laboratory of Clinical Chemistry and Laboratory Medicine, Máxima Medical Center, Eindhoven, the Netherlands.
  • Merel van Wijnen
    Laboratory of Clinical Chemistry and Laboratory Medicine, Meander Medical Center, Amersfoort, the Netherlands.
  • Mirelle J A J Huijskens
    Department of Clinical Chemistry and Haematology, Zuyderland Medical Center, Sittard/Heerlen, the Netherlands.
  • Tamara Koopmann
    Department of Clinical Genetics, Laboratory for Genome Diagnostics, Leiden University Medical Center, Leiden, the Netherlands.
  • Bram van Ginneken
    Diagnostic Image Analysis Group, Department of Radiology and Nuclear Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Fraunhofer Mevis, Bremen, Germany.
  • Ron Kusters
    Laboratory of Clinical Chemistry and Hematology, Jeroen Bosch Hospital's, Hertogenbosch, the Netherlands.
  • Steef Kurstjens
    Laboratory for Clinical Chemistry and Hematology, Jeroen Bosch Hospital, 's-Hertogenbosch, The Netherlands.