International Journal of Preventive Medicine (Int J Prev Med)2008-78021182020092723242324ENNarges Genetics Diagnostic Laboratory, Ahvaz,Narges Genetics Diagnostic Laboratory, Ahvaz & Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, AhvazNarges Genetics Diagnostic Laboratory, Ahvaz & Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, AhvazNarges Genetics Diagnostic Laboratory, Ahvaz & Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, AhvazNarges Genetics Diagnostic Laboratory, AhvazNarges Genetics Diagnostic Laboratory, AhvazNarges Genetics Diagnostic Laboratory, Ahvaz & 3Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur Universityof medical Sciences, AhvazNarges Genetics Diagnostic Laboratory, Ahvaz & Department of Genetics, Ahvaz Jundishapur University of medical Sciences, AhvazNarges Genetics Diagnostic Laboratory, Ahvaz & Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran,Health Research Institute, Research Centre of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences, AhvazTumor Immunology, Department for BioMedical Research (DBMR), University of Bern, Bern & Department of Medical Oncology, Inselspital, Bern University Hospital, University of Bern, BernNarges Genetics Diagnostic Laboratory, Ahvaz & Department of Genetics, Ahvaz Jundishapur University of medical Sciences, AhvazHealth Research Institute, Research Centre of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences, Ahvaz20200923<p><strong>Background</strong>: Various blood diseases are caused by mutations in the FANCA, FANCC, and ITGA2B genes. Exome sequencing is a suitable method for identifying single‑gene disease and genetic heterogeneity complaints</p><p><strong>Methods</strong>: Among families who were referred to Narges Genetic and PND<br />Laboratory in 2015‑2017, five families with a history of blood diseases were analyzed using the whole exome sequencing (WES) method</p><p><strong>Results</strong>: We detected two novel mutations (c.190‑2A&gt;G and c.2840C&gt;G) in the FANCA gene, c. 1429dupA mutation in the FANCC gene, and c.1392A&gt;G<br />mutation in the ITGA2B gene. The prediction of variant pathogenicity has been done using bioinformatics tools such as Mutation taster PhD‑SNP and polyphen2 and were confirmed by Sanger sequencing</p><p><strong>Conclusions</strong>: WES could be as a precise tool for identifying the pathologic variants in affected patient and heterozygous carriers among families. This highly successful technique will remain at the forefront of platelet and blood genomic research.<br /> </p>http://ijpm.mui.ac.ir/index.php/ijpm/article/view/2324http://ijpm.mui.ac.ir/index.php/ijpm/article/download/2324/717718166