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

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

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, th...

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Bibliographic Details
Main Authors: Friederike Häuser, Heidi Rossmann, Anke Adenaeuer, Annette Shrestha, Dana Marandiuc, Claudia Paret, Jörg Faber, Karl J. Lackner, Bernhard Lämmle, Olaf Beck
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:International Journal of Molecular Sciences
Subjects:
hereditary spherocytosis
NGS
RBC membrane disorder
<i>ANK1</i>
<i>EPB42</i>
<i>SLC4A1</i>
Online Access:https://www.mdpi.com/1422-0067/24/23/17021

Internet

https://www.mdpi.com/1422-0067/24/23/17021

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