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, Anoeska Schipper Laboratory of Clinical Chemistry and Hematology, Jeroen Bosch Hospital’s , Hertogenbosch , the Netherlands Diagnostic Image Analysis Group, Radboudumc , Nijmegen , the Netherlands Search for other works by this author on: Oxford Academic Matthieu Rutten Diagnostic Image Analysis Group, Radboudumc , Nijmegen , the Netherlands Department of Radiology, Jeroen Bosch Hospital’s , Hertogenbosch , the Netherlands Search for other works by this author on: Oxford Academic Adriaan van Gammeren Laboratory of Clinical Chemistry and Laboratory Medicine, Amphia Hospital , Breda , the Netherlands Search for other works by this author on: Oxford Academic Cornelis L Harteveld Department of Clinical Genetics, Laboratory for Genome Diagnostics, Leiden University Medical Center , Leiden , the Netherlands Search for other works by this author on: Oxford Academic Eloísa Urrechaga Laboratory of Hematology, Hospital Universitario Galdakao Usansolo , Galdakao , Spain Search for other works by this author on: Oxford Academic Floor Weerkamp Laboratory of Clinical Chemistry, Maasstad Hospital , Rotterdam , the Netherlands Search for other works by this author on: Oxford Academic Gijs den Besten Laboratory of Clinical Chemistry and Laboratory Medicine, Isala Hospital , Zwolle , the Netherlands Search for other works by this author on: Oxford Academic Johannes Krabbe Laboratory of Clinical Chemistry and Hematology, Medisch Spectrum Twente/Medlon BV , Enschede , the Netherlands Search for other works by this author on: Oxford Academic Jennichjen Slomp Laboratory of Clinical Chemistry and Hematology, Medisch Spectrum Twente/Medlon BV , Enschede , the Netherlands Search for other works by this author on: Oxford Academic Lise Schoonen Laboratory of Clinical Chemistry, Maasstad Hospital , Rotterdam , the Netherlands Laboratory of Clinical Chemistry and Laboratory Medicine, Canisius Wilhelmina Hospital , Nijmegen , the Netherlands Search for other works by this author on: Oxford Academic
, Maarten Broeren Laboratory of Clinical Chemistry and Laboratory Medicine, Máxima Medical Center , Eindhoven , the Netherlands Search for other works by this author on: Oxford Academic Merel van Wijnen Laboratory of Clinical Chemistry and Laboratory Medicine, Meander Medical Center , Amersfoort , the Netherlands Search for other works by this author on: Oxford Academic Mirelle J A J Huijskens Department of Clinical Chemistry and Haematology, Zuyderland Medical Center , Sittard/Heerlen , the Netherlands Search for other works by this author on: Oxford Academic Tamara Koopmann Department of Clinical Genetics, Laboratory for Genome Diagnostics, Leiden University Medical Center , Leiden , the Netherlands Search for other works by this author on: Oxford Academic Bram van Ginneken Diagnostic Image Analysis Group, Radboudumc , Nijmegen , the Netherlands Search for other works by this author on: Oxford Academic Ron Kusters Laboratory of Clinical Chemistry and Hematology, Jeroen Bosch Hospital’s , Hertogenbosch , the Netherlands Department of Health Technology and Services Research, Technical Medical Centre, University of Twente , Enschede , the Netherlands Search for other works by this author on: Oxford Academic Steef Kurstjens Laboratory of Clinical Chemistry and Hematology, Jeroen Bosch Hospital’s , Hertogenbosch , the Netherlands Address correspondence to this author at: Laboratory of Clinical Chemistry and Hematology, Jeroen Bosch Hospital, Henri Dunantstraat 1, 5223 GZ ‘s Hertogenbosch, the Netherlands. Tel +031(0) 0626281521; e-mail steef_kurstjens@hotmail.com. Search for other works by this author on: Oxford Academic
https://orcid.org/0000-0003-1279-5448 Clinical Chemistry, hvae081, https://doi.org/10.1093/clinchem/hvae081
Published:
22 June 2024
Article history
Received:
12 January 2024
Accepted:
13 May 2024
Published:
22 June 2024
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Anoeska Schipper, Matthieu Rutten, Adriaan van Gammeren, Cornelis L Harteveld, Eloísa Urrechaga, Floor Weerkamp, Gijs den Besten, Johannes Krabbe, Jennichjen Slomp, Lise Schoonen, Maarten Broeren, Merel van Wijnen, Mirelle J A J Huijskens, Tamara Koopmann, Bram van Ginneken, Ron Kusters, Steef Kurstjens, Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data, Clinical Chemistry, 2024;, hvae081, https://doi.org/10.1093/clinchem/hvae081
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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.
Methods
Hemoglobinopathy test results from 10 322 adults were extracted retrospectively from 8 Dutch laboratories. eXtreme Gradient Boosting (XGB) and logistic regression models were developed to differentiate negative from positive hemoglobinopathy cases, using 7 routine CBC parameters. External validation was conducted on a data set from an independent Dutch laboratory, with an additional external validation on a Spanish data set (n = 2629) specifically for differentiating thalassemia from iron deficiency anemia (IDA).
Results
The XGB and logistic regression models achieved an area under the receiver operating characteristic (AUROC) of 0.88 and 0.84, respectively, in distinguishing negative from positive hemoglobinopathy cases in the independent external validation set. Subclass analysis showed that the XGB model reached an AUROC of 0.97 for β-thalassemia, 0.98 for α0-thalassemia, 0.95 for hom*ozygous α+-thalassemia, 0.78 for heterozygous α+-thalassemia, and 0.94 for the structural hemoglobin variants Hemoglobin C, Hemoglobin D, Hemoglobin E. Both models attained AUROCs of 0.95 in differentiating IDA from thalassemia.
Conclusions
Both the XGB and logistic regression model demonstrate high accuracy in predicting a broad range of hemoglobinopathies and are effective in differentiating hemoglobinopathies from IDA. Integration of these models into the laboratory information system facilitates automated hemoglobinopathy detection using routine CBC parameters.
© Association for Diagnostics & Laboratory Medicine 2024. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.
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