{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T01:07:13Z","timestamp":1790384833667,"version":"4.1.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2020,3,23]],"date-time":"2020-03-23T00:00:00Z","timestamp":1584921600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,3,23]],"date-time":"2020-03-23T00:00:00Z","timestamp":1584921600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2015\/185749"],"award-info":[{"award-number":["2015\/185749"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2011\/519590"],"award-info":[{"award-number":["2011\/519590"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary anemias are a group of heterogeneous disorders including hemolytic anemias and hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA). Causative mutations occur in a wide range of genes leading to deficiencies in red cell production, structure, or function. The genetic screening of the main genes is important for timely diagnosis, since routine laboratory tests fail in a percentage of the cases, appropriate treatment decisions, and genetic counseling purposes. A conventional gene-by-gene sequencing approach is expensive and highly time-consuming, due to the genetic complexity of these diseases. To overcome this problem, we customized a targeted sequencing panel covering 35 genes previously associated to red cell disorders. We analyzed 36 patients, and potentially pathogenic variants were identified in 26 cases (72%). Twenty variants were novel. Remarkably, mutations in the <jats:italic>SPTB<\/jats:italic> gene <jats:italic>(<\/jats:italic>\u03b2-spectrin<jats:italic>)<\/jats:italic> were found in 34.6% of the patients with hereditary spherocytosis (HS), suggesting that <jats:italic>SPTB<\/jats:italic> is a major HS gene in the Southeast of Brazil. We also identified two cases with dominant HS presenting null mutations in trans with \u03b1-<jats:sup>LELY<\/jats:sup> in <jats:italic>SPTA1<\/jats:italic> gene. This is the first comprehensive genetic analysis for hereditary anemias in the Brazilian population, contributing to a better understanding of the genetic basis and phenotypic consequences of these rare conditions in our population.<\/jats:p>","DOI":"10.1007\/s00277-020-03986-8","type":"journal-article","created":{"date-parts":[[2020,4,7]],"date-time":"2020-04-07T13:02:52Z","timestamp":1586264572000},"page":"955-962","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil"],"prefix":"10.1007","volume":"99","author":[{"given":"M. C. C. M.","family":"Svidnicki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. K.","family":"Zanetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Congrains-Castillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. F.","family":"Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. T. O.","family":"Saad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,23]]},"reference":[{"key":"3986_CR1","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1002\/ajh.25058","volume":"93","author":"R Russo","year":"2018","unstructured":"Russo R, Manna F, Gambale A et al (2018) Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. Am J Hematol 93:672\u2013682. https:\/\/doi.org\/10.1002\/ajh.25058","journal-title":"Am J Hematol"},{"key":"3986_CR2","doi-asserted-by":"publisher","first-page":"516","DOI":"10.3324\/haematol.2011.052845","volume":"97","author":"P Bianchi","year":"2012","unstructured":"Bianchi P, Fermo E, Vercellati C, Marcello AP, Porretti L, Cortelezzi A, Barcellini W, Zanella A (2012) Diagnostic power of laboratory tests for hereditary spherocytosis : a comparison study in 150 patients grouped according to molecular and clinical characteristics. Haematologica 97:516\u2013523. https:\/\/doi.org\/10.3324\/haematol.2011.052845","journal-title":"Haematologica"},{"key":"3986_CR3","unstructured":"Averbuch NS, Dgany O, Krasnov T, et al (2018) Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias. 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Br J Haematol 174:806\u2013814. https:\/\/doi.org\/10.1111\/bjh.14131","journal-title":"Br J Haematol"},{"key":"3986_CR7","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1111\/bjh.14221","volume":"175","author":"NBA Roy","year":"2016","unstructured":"Roy NBA, Wilson EA, Henderson S, Wray K, Babbs C, Okoli S, Atoyebi W, Mixon A, Cahill MR, Carey P, Cullis J, Curtin J, Dreau H, Ferguson DJ, Gibson B, Hall G, Mason J, Morgan M, Proven M, Qureshi A, Sanchez Garcia J, Sirachainan N, Teo J, Tedg\u00e5rd U, Higgs D, Roberts D, Roberts I, Schuh A (2016) A novel 33-gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias. Br J Haematol 175:318\u2013330. https:\/\/doi.org\/10.1111\/bjh.14221","journal-title":"Br J Haematol"},{"key":"3986_CR8","doi-asserted-by":"publisher","unstructured":"Li Q, Wang K (2017) InterVar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines. 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