Exome sequencing for diagnosis of congenital hemolytic anemia
BACKGROUND: Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being usually performed as a late step. In this study, we explored 40 patients with congenital hemolytic anemia by whole exome sequencing: 20 patients with hereditary spherocytosis and 20 patients with unexplained hemolysis.
RESULTS: A probable genetic cause of disease was identified in 82.5% of the patients (33/40): 100% of those with suspected hereditary spherocytosis (20/20) and 65% of those with unexplained hemolysis (13/20). We found that several patients carried genetic variations in more than one gene (3/20 in the hereditary spherocytosis group, 6/13 fully elucidated patients in the unexplained hemolysis group), giving a more accurate picture of the genetic complexity of congenital hemolytic anemia. In addition, whole exome sequencing allowed us to identify genetic variants in non-congenital hemolytic anemia genes that explained part of the phenotype in 3 patients.
CONCLUSION: The rapid development of next generation sequencing has rendered the genetic study of these diseases much easier and cheaper. Whole exome sequencing in congenital hemolytic anemia could provide a more precise and quicker diagnosis, improve patients' healthcare and probably has to be democratized notably for complex cases.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:15 |
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| Enthalten in: |
Orphanet journal of rare diseases - 15(2020), 1 vom: 08. Juli, Seite 180 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Mansour-Hendili, Lamisse [VerfasserIn] |
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| Links: |
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| Themen: |
Anemia |
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| Anmerkungen: |
Date Completed 18.06.2021 Date Revised 07.12.2022 published: Electronic Citation Status MEDLINE |
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| doi: |
10.1186/s13023-020-01425-5 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM312183712 |
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| 520 | |a BACKGROUND: Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being usually performed as a late step. In this study, we explored 40 patients with congenital hemolytic anemia by whole exome sequencing: 20 patients with hereditary spherocytosis and 20 patients with unexplained hemolysis | ||
| 520 | |a RESULTS: A probable genetic cause of disease was identified in 82.5% of the patients (33/40): 100% of those with suspected hereditary spherocytosis (20/20) and 65% of those with unexplained hemolysis (13/20). We found that several patients carried genetic variations in more than one gene (3/20 in the hereditary spherocytosis group, 6/13 fully elucidated patients in the unexplained hemolysis group), giving a more accurate picture of the genetic complexity of congenital hemolytic anemia. In addition, whole exome sequencing allowed us to identify genetic variants in non-congenital hemolytic anemia genes that explained part of the phenotype in 3 patients | ||
| 520 | |a CONCLUSION: The rapid development of next generation sequencing has rendered the genetic study of these diseases much easier and cheaper. Whole exome sequencing in congenital hemolytic anemia could provide a more precise and quicker diagnosis, improve patients' healthcare and probably has to be democratized notably for complex cases | ||
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a Congenital | |
| 650 | 4 | |a Hemolysis | |
| 650 | 4 | |a Membrane | |
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| 650 | 4 | |a NGS | |
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| 700 | 1 | |a Badaoui, Bouchra |e verfasserin |4 aut | |
| 700 | 1 | |a Sakka, Mehdi |e verfasserin |4 aut | |
| 700 | 1 | |a Gameiro, Christine |e verfasserin |4 aut | |
| 700 | 1 | |a Ortonne, Valérie |e verfasserin |4 aut | |
| 700 | 1 | |a Wagner-Ballon, Orianne |e verfasserin |4 aut | |
| 700 | 1 | |a Pissard, Serge |e verfasserin |4 aut | |
| 700 | 1 | |a Picard, Véronique |e verfasserin |4 aut | |
| 700 | 1 | |a Ghazal, Khaldoun |e verfasserin |4 aut | |
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| 700 | 1 | |a Galactéros, Frédéric |e verfasserin |4 aut | |
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