Häuser, Friederike; Rossmann, Heidi; Adenaeuer, Anke; Shrestha, Annette; Marandiuc, Dana; Paret, Claudia; Faber, Jörg; Lackner, Karl J; Lämmle, Bernhard; Beck, Olaf (2023). Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations? International journal of molecular sciences, 24(23) MDPI 10.3390/ijms242317021
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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 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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory |
UniBE Contributor: |
Lämmle, Bernhard |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1422-0067 |
Publisher: |
MDPI |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
12 Dec 2023 11:06 |
Last Modified: |
15 Dec 2023 05:54 |
Publisher DOI: |
10.3390/ijms242317021 |
PubMed ID: |
38069343 |
Uncontrolled Keywords: |
ANK1 EPB42 NGS RBC membrane disorder SLC4A1 SPTA1 SPTB hereditary spherocytosis |
BORIS DOI: |
10.48350/190092 |
URI: |
https://boris.unibe.ch/id/eprint/190092 |
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