{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:30:42Z","timestamp":1790699442580,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,6,25]],"date-time":"2018-06-25T00:00:00Z","timestamp":1529884800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the large number of genes involved in rare anemias and the similarities in the clinical presentation of the different syndromes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>We aimed to enhance the diagnosis of patients with congenital anemias by using targeted next\u2010generation sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genetic diagnosis was performed by gene capture followed by next\u2010generation sequencing of 76 genes known to cause anemia syndromes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genetic diagnosis was achieved in 13 out of 21 patients (62%). Six patients were diagnosed with pyruvate kinase deficiency, 4 with dehydrated hereditary stomatocytosis, 2 with sideroblastic anemia, and 1 with <jats:styled-content style=\"fixed-case\">CDA<\/jats:styled-content> type <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>. Eight novel mutations were found. In 7 patients, the genetic diagnosis differed from the pretest presumed diagnosis. The mean lag time from presentation to diagnosis was over 13\u00a0years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Targeted next\u2010generation sequencing led to an accurate diagnosis in over 60% of patients with rare anemias. These patients do not need further diagnostic workup. Earlier incorporation of this method into the workup of patients with congenital anemia may improve patients\u2019 care and enable genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.13097","type":"journal-article","created":{"date-parts":[[2018,5,22]],"date-time":"2018-05-22T14:49:03Z","timestamp":1527000543000},"page":"297-304","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias"],"prefix":"10.1111","volume":"101","author":[{"given":"Noa","family":"Shefer Averbuch","sequence":"first","affiliation":[{"name":"Schneider Children's Medical Center of Israel  Petach Tikva Israel"},{"name":"Sackler School of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1680-2388","authenticated-orcid":false,"given":"Orna","family":"Steinberg\u2010Shemer","sequence":"additional","affiliation":[{"name":"Schneider Children's Medical Center of Israel  Petach Tikva Israel"},{"name":"Sackler School of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Dgany","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Laboratory Felsenstein Medical Research Center Sackler School of Medicine Tel Aviv University  Petach Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Krasnov","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Laboratory Felsenstein Medical Research Center Sackler School of Medicine Tel Aviv University  Petach Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Noy\u2010Lotan","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Laboratory Felsenstein Medical Research Center Sackler School of Medicine Tel Aviv University  Petach Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Yacobovich","sequence":"additional","affiliation":[{"name":"Schneider Children's Medical Center of Israel  Petach Tikva Israel"},{"name":"Sackler School of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir A.","family":"Kuperman","sequence":"additional","affiliation":[{"name":"Blood Coagulation Service and Pediatric Hematology Clinic Galilee Medical Center  Nahariya Israel"},{"name":"Azrieli Faculty of Medicine Bar\u2010Ilan University  Safed Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5178-0655","authenticated-orcid":false,"given":"Antonis","family":"Kattamis","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics National &amp; 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