Hereditary spherocytosis : can next-generation sequencing of the five most frequently affected genes replace time-consuming functional investigations?

dc.contributor.authorHäuser, Friederike
dc.contributor.authorRossmann, Heidi
dc.contributor.authorAdenaeuer, Anke
dc.contributor.authorShrestha, Annette
dc.contributor.authorMarandiuc, Dana
dc.contributor.authorParet, Claudia
dc.contributor.authorFaber, Jörg
dc.contributor.authorLackner, Karl J.
dc.contributor.authorLämmle, Bernhard
dc.contributor.authorBeck, Olaf
dc.date.accessioned2023-12-15T09:49:26Z
dc.date.available2023-12-15T09:49:26Z
dc.date.issued2023
dc.description.abstractCongenital defects of the erythrocyte membrane are common in northern Europe and all over the world. The resulting diseases, for example, hereditary spherocytosis (HS), are often underdiagnosed, partly due to their sometimes mild and asymptomatic courses. In addition to a broad clinical spectrum, this is also due to the occasionally complex diagnostics that are not available to every patient. To test whether next-generation sequencing (NGS) could replace time-consuming spherocytosis-specific functional tests, 22 consecutive patients with suspected red cell membranopathy underwent functional blood tests. We were able to identify the causative genetic defect in all patients with suspected HS who underwent genetic testing (n = 17). The sensitivity of the NGS approach, which tests five genes (ANK1 (gene product: ankyrin1), EPB42 (erythrocyte membrane protein band4.2), SLC4A1 (band3), SPTA1 (α-spectrin), and SPTB (β-spectrin)), was 100% (95% confidence interval: 81.5–100.0%). The major advantage of genetic testing in the paediatric setting is the small amount of blood required (<200 µL), and compared to functional assays, sample stability is not an issue. The combination of medical history, basic laboratory parameters, and an NGS panel with five genes is sufficient for diagnosis in most cases. Only in rare cases, a more comprehensive functional screening is required.en_GB
dc.identifier.doihttp://doi.org/10.25358/openscience-9760
dc.identifier.urihttps://openscience.ub.uni-mainz.de/handle/20.500.12030/9778
dc.language.isoengde
dc.rightsCC-BY-4.0*
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subject.ddc500 Naturwissenschaftende_DE
dc.subject.ddc500 Natural sciences and mathematicsen_GB
dc.subject.ddc570 Biowissenschaftende_DE
dc.subject.ddc570 Life sciencesen_GB
dc.subject.ddc610 Medizinde_DE
dc.subject.ddc610 Medical sciencesen_GB
dc.titleHereditary spherocytosis : can next-generation sequencing of the five most frequently affected genes replace time-consuming functional investigations?en_GB
dc.typeZeitschriftenaufsatzde
jgu.journal.issue23de
jgu.journal.titleInternational journal of molecular sciencesde
jgu.journal.volume24de
jgu.organisation.departmentFB 04 Medizinde
jgu.organisation.nameJohannes Gutenberg-Universität Mainz
jgu.organisation.number2700
jgu.organisation.placeMainz
jgu.organisation.rorhttps://ror.org/023b0x485
jgu.pages.alternative17021de
jgu.publisher.doi10.3390/ijms242317021de
jgu.publisher.issn1422-0067de
jgu.publisher.nameMolecular Diversity Preservation Internationalde
jgu.publisher.placeBaselde
jgu.publisher.year2023
jgu.rights.accessrightsopenAccess
jgu.subject.ddccode500de
jgu.subject.ddccode570de
jgu.subject.ddccode610de
jgu.subject.dfgLebenswissenschaftende
jgu.type.contenttypeScientific articlede
jgu.type.dinitypeArticleen_GB
jgu.type.resourceTextde
jgu.type.versionPublished versionde

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