Ontology highlight
ABSTRACT:
SUBMITTER: Mansour-Hendili L
PROVIDER: S-EPMC7341591 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Mansour-Hendili Lamisse L Aissat Abdelrazak A Badaoui Bouchra B Sakka Mehdi M Gameiro Christine C Ortonne Valérie V Wagner-Ballon Orianne O Pissard Serge S Picard Véronique V Ghazal Khaldoun K Bahuau Michel M Guitton Corinne C Mansour Ziad Z Duplan Mylène M Petit Arnaud A Costedoat-Chalumeau Nathalie N Michel Marc M Bartolucci Pablo P Moutereau Stéphane S Funalot Benoît B Galactéros Frédéric F
Orphanet journal of rare diseases 20200708 1
<h4>Background</h4>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.<h4>Results</h4>A probable genetic cause of disease was ...[more]