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      The pivotal role of HbA1c assay to detect hemoglobinopathies: A 5‐year observational retrospective study in the population of Southern France

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          Abstract

          Background and Aims

          Mobility and migration flows are growing from different countries of the world to European countries, including France and in particular the Mediterranean basin. This study aimed to investigate the presence of hemoglobin (Hb) variants in outpatients/inpatients of the Montpellier Hospital (France) in whom an HbA1c assay had been performed and for which the country of birth had been informed.

          Methods

          This is a retrospective study from January 2016 to December 2020 based on all high‐performance liquid chromatography (HPLC) chromatograms (Tosoh Bioscience HLC‐723G8) having an alarm of suspected Hb variant during HbA1c measurement. The corresponding samples were systematically sent to the hematology laboratory for confirmation and identification of Hb variant. Patient's medical history, clinical and demographic data were extracted from each medical chart. Statistical analyses were performed using XLSTAT® software, version 2016.06.35661.

          Results

          Three hundred sixty‐three patients were confirmed with Hb variant exhibiting 17 different Hb profiles, highlighting the pivotal role of glycated hemoglobin (HbA1c) as a detection step. The prevalence of Hb variant in this southern French population was 0.71%, with the highest frequency for the beta‐globin variants ( n = 342/363; i.e., 94.2%), including the most common: S, C, E, and D in 200/342 (58.5%), 83/342 (24.3%), 29/342 (8.5%), and 11/342 (3.2%), respectively. Among patients with Hb variants, almost half (165/363; i.e., 45.4%) were born in the African continent with a predominance for Morocco (32/165; i.e., 19.3%) and Algeria (29/165; i.e., 17.5%).

          Conclusion

          HbA1c assay is a useful tool to detect Hb variants. Hemoglobinopathies are a public health issue in the current French population which is a multiethnic society. Despite the monocentric nature of our study, we note a high frequency of Hb variants in the south of France, which underlines the importance of screening for Hb variants in the whole population.

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          2. Classification and Diagnosis of Diabetes: Standards of Medical Care in Diabetes—2021

          (2020)
          The American Diabetes Association (ADA) "Standards of Medical Care in Diabetes" includes the ADA's current clinical practice recommendations and is intended to provide the components of diabetes care, general treatment goals and guidelines, and tools to evaluate quality of care. Members of the ADA Professional Practice Committee, a multidisciplinary expert committee (https://doi.org/10.2337/dc21-SPPC), are responsible for updating the Standards of Care annually, or more frequently as warranted. For a detailed description of ADA standards, statements, and reports, as well as the evidence-grading system for ADA's clinical practice recommendations, please refer to the Standards of Care Introduction (https://doi.org/10.2337/dc21-SINT). Readers who wish to comment on the Standards of Care are invited to do so at professional.diabetes.org/SOC.
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            A review of variant hemoglobins interfering with hemoglobin A1c measurement.

            Randie R. Little, William Roberts (2009)
            Hemoglobin A1c (HbA1c) is used routinely to monitor long-term glycemic control in people with diabetes mellitus, as HbA1c is related directly to risks for diabetic complications. The accuracy of HbA1c methods can be affected adversely by the presence of hemoglobin (Hb) variants or elevated levels of fetal hemoglobin (HbF). The effect of each variant or elevated HbF must be examined with each specific method. The most common Hb variants worldwide are HbS, HbE, HbC, and HbD. All of these Hb variants have single amino acid substitutions in the Hb beta chain. HbF is the major hemoglobin during intrauterine life; by the end of the first year, HbF falls to values close to adult levels of approximately 1%. However, elevated HbF levels can occur in certain pathologic conditions or with hereditary persistence of fetal hemoglobin. In a series of publications over the past several years, the effects of these four most common Hb variants and elevated HbF have been described. There are clinically significant interferences with some methods for each of these variants. A summary is given showing which methods are affected by the presence of the heterozygous variants S, E, C, and D and elevated HbF. Methods are divided by type (immunoassay, ion-exchange high-performance liquid chromatography, boronate affinity, other) with an indication of whether the result is artificially increased or decreased by the presence of a Hb variant. Laboratorians should be aware of the limitations of their method with respect to these interferences. 2009 Diabetes Technology Society.
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              Population Screening for Hemoglobinopathies.

              H. Goonasekera, C. S. Paththinige, V. Dissanayake (2018)
              Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases. The main aim of screening is to reduce the number of affected births and, in the case of sickle cell disease, reduce childhood morbidity and mortality. Screening strategies vary depending on the population group, but a few common screening test methods are universally used. We discuss the salient features of population-screening programs around the globe as well as current and proposed screening test methodologies.
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                Author and article information

                Contributors
                Jean P. Cristol: jp-cristol@chu-montpellier.fr
                Journal
                Journal ID (nlm-ta): Health Sci Rep
                Journal ID (iso-abbrev): Health Sci Rep
                Journal ID (doi): 10.1002/(ISSN)2398-8835
                Journal ID (publisher-id): HSR2
                Title: Health Science Reports
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2398-8835
                Publication date (Electronic): 16 July 2023
                Publication date Collection: July 2023
                Volume: 6
                Issue: 7 ( doiID: 10.1002/hsr2.v6.7 )
                Electronic Location Identifier: e1270
                Affiliations
                [ 1 ] Department of Biochemistry, Centre Ressources Biologiques de Montpellier University Hospital of Montpellier Montpellier France
                [ 2 ] PhyMedExp University of Montpellier INSERM U1046, CNRS UMR 9214 Montpellier France
                [ 3 ] Hematology Department Saint Eloi Hospital Montpellier France
                Author notes
                [*] [* ] Correspondence Jean P. Cristol, Department of Biochemistry, Centre Ressources Biologiques de Montpellier, University Hospital of Montpellier, 371, Ave du doyen Gaston Giraud, 34295 Montpellier Cédex 5, France.

                Email: jp-cristol@ 123456chu-montpellier.fr

                Author information
                http://orcid.org/0000-0001-6538-3944
                Article
                Publisher ID: HSR21270
                DOI: 10.1002/hsr2.1270
                PMC ID: 10350560
                SO-VID: 25b55a24-351e-4ca5-976f-d2af253583b9
                Copyright © © 2023 The Authors. Health Science Reports published by Wiley Periodicals LLC.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                Date revision received : 14 April 2023
                Date received : 01 February 2023
                Date accepted : 05 May 2023
                Page count
                Figures: 2, Tables: 1, Pages: 8, Words: 3837
                Categories
                Subject: Original Research
                Subject: Original Research
                Custom metadata
                source-schema-version-number 2.0
                cover-date July 2023
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:6.3.2 mode:remove_FC converted:17.07.2023

                Keywords: france,hemoglobin variant,hemoglobinopathy screening,migrations
                Data availability:
                Keywords: france, hemoglobin variant, hemoglobinopathy screening, migrations

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