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Article

Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?

International journal of molecular sciences - 30 Nov 2023

Häuser Friederike, Rossmann Heidi, Adenaeuer Anke, Shrestha Annette, Marandiuc Dana, Paret Claudia, Faber Jörg, Lackner Karl J, Lämmle Bernhard, Beck Olaf

Abstract excerpt

Congenital 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...

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Identifiers

PMID: 38069343
DOI: 10.3390/ijms242317021
PMCID: PMC10707146

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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