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DC Field | Value | Language |
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dc.contributor.author | Forni G.L. | en |
dc.contributor.author | Caforio P. | en |
dc.contributor.author | Pinto V. | en |
dc.contributor.author | Pignataro P. | en |
dc.contributor.author | Radhakrishnan K. | en |
dc.contributor.author | Unal S. | en |
dc.contributor.author | Tomaiuolo G. | en |
dc.contributor.author | Iolascon A. | en |
dc.contributor.author | Russo R. | en |
dc.contributor.author | Andolfo I. | en |
dc.contributor.author | Manna F. | en |
dc.contributor.author | Gambale A. | en |
dc.contributor.author | Marra R. | en |
dc.contributor.author | Rosato B.E. | en |
dc.date.accessioned | 2021-05-14T12:34:11Z | en |
dc.date.available | 2021-05-14T12:34:11Z | en |
dc.date.copyright | 2018 | en |
dc.date.created | 20180427 | en |
dc.date.issued | 2018-04-27 | en |
dc.identifier.citation | American Journal of Hematology. 93 (5) (pp 672-682), 2018. Date of Publication: May 2018. | en |
dc.identifier.issn | 0361-8609 | en |
dc.identifier.uri | https://repository.monashhealth.org/monashhealthjspui/handle/1/37000 | en |
dc.description.abstract | Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond-Blackfan anemia; hemolytic anemias due to erythrocyte membrane defects, as hereditary spherocytosis and stomatocytosis; hemolytic anemias due to enzymatic defects. The study describes the diagnostic workflow for HA, based on the development of two consecutive versions of a targeted-NGS panel, including 34 and 71 genes, respectively. Seventy-four probands from 62 unrelated families were investigated. Our study includes the most comprehensive gene set for these anemias and the largest cohort of patients described so far. We obtained an overall diagnostic yield of 64.9%. Despite 54.2% of cases showed conclusive diagnosis fitting well to the clinical suspicion, the multi-gene analysis modified the original clinical diagnosis in 45.8% of patients (nonmatched phenotype-genotype). Of note, 81.8% of nonmatched patients were clinically suspected to suffer from CDA. Particularly, 45.5% of the probands originally classified as CDA exhibited a conclusive diagnosis of chronic anemia due to enzymatic defects, mainly due to mutations in PKLR gene. Interestingly, we also identified a syndromic CDA patient with mild anemia and epilepsy, showing a homozygous mutation in CAD gene, recently associated to early infantile epileptic encephalopathy-50 and CDA-like anemia. Finally, we described a patient showing marked iron overload due to the coinheritance of PIEZO1 and SEC23B mutations, demonstrating that the multi-gene approach is valuable not only for achieving a correct and definitive diagnosis, but also for guiding treatment.Copyright © 2018 Wiley Periodicals, Inc. | en |
dc.language | en | en |
dc.language | English | en |
dc.publisher | Wiley-Liss Inc. (E-mail: info@wiley.com) | en |
dc.relation.ispartof | American Journal of Hematology | en |
dc.title | Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. | en |
dc.type | Article | en |
dc.type.studyortrial | Observational study (cohort, case-control, cross sectional or survey) | - |
dc.identifier.doi | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1002/ajh.25058 | en |
dc.publisher.place | United States | en |
dc.identifier.orcid | Russo, Roberta; ORCID: http://orcid.org/0000-0002-3624-7721 Andolfo, Immacolata; ORCID: http://orcid.org/0000-0003-0493-812X Forni, Gian Luca; ORCID: http://orcid.org/0000-0001-9833-1016 | en |
dc.identifier.pubmedid | 29396846 [http://www.ncbi.nlm.nih.gov/pubmed/?term=29396846] | en |
dc.identifier.source | 620850454 | en |
dc.identifier.institution | (Russo, Andolfo, Manna, Gambale, Marra, Rosato, Caforio, Iolascon) Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universita degli Studi di Napoli Federico II, Napoli, Italy (Russo, Andolfo, Manna, Gambale, Marra, Rosato, Caforio, Pignataro, Iolascon) CEINGE Biotecnologie Avanzate, Napoli, Italy (Pinto, Forni) Centro della Microcitemia e Anemie Congenite, Ospedale Galliera, Genova, Italy (Radhakrishnan) Paediatric Haematology/Oncology, Children's Cancer Centre, Monash Children's Hospital, Melbourne, VIC 3168, Australia (Radhakrishnan) Department of Haematology, Monash Medical Centre, Melbourne, VIC 3168, Australia (Unal) Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey (Tomaiuolo) Dipartimento di Ingegneria Chimica, dei Materiali e della Prod. Indus., Federico II, Napoli, Italy | en |
dc.description.address | R. Russo, Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universita degli Studi di Napoli Federico II, Napoli, Italy. E-mail: roberta.russo@unina.it | en |
dc.description.publicationstatus | Embase | en |
dc.rights.statement | Copyright 2019 Elsevier B.V., All rights reserved. | en |
dc.identifier.authoremail | Russo R.; roberta.russo@unina.it | en |
dc.description.grant | No: DGRC2362/07 Organization: *Regione Campania* Organization No: 501100003852 Country: Italy | en |
item.cerifentitytype | Publications | - |
item.fulltext | No Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.grantfulltext | none | - |
item.openairetype | Article | - |
crisitem.author.dept | Paediatric - Haematology-Oncology (Children's Cancer Centre) | - |
Appears in Collections: | Articles |
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