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Exome sequencing for diagnosis of congenital hemolytic anemia.
- Source :
-
Orphanet Journal of Rare Diseases . 7/8/2020, Vol. 15 Issue 1, p1-15. 15p. - Publication Year :
- 2020
-
Abstract
- <bold>Background: </bold>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.<bold>Results: </bold>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.<bold>Conclusion: </bold>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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *EXOMES
*HEMOLYTIC anemia
*ERYTHROCYTES
*GENETIC disorders
*HEMOLYSIS & hemolysins
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Volume :
- 15
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Orphanet Journal of Rare Diseases
- Publication Type :
- Academic Journal
- Accession number :
- 144456553
- Full Text :
- https://doi.org/10.1186/s13023-020-01425-5