{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T01:06:56Z","timestamp":1790384816983,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,6,12]],"date-time":"2016-06-12T00:00:00Z","timestamp":1465689600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The ARUP Institute for Experimental Pathology"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Hereditary haemolytic anaemias are genetically and phenotypically heterogeneous disorders characterized by increased red cell destruction, with consequences ranging from innocuous to severe life\u2010threatening anaemia. Diagnostic laboratories endeavour to assist clinicians reach the exact patient diagnosis by using tests principally based on morphological and biochemical techniques. However, these routine studies may be inconclusive, particularly in newborn infants and when transfusions have recently been administered. Large numbers and size of the potentially involved genes also impose a practical challenge for molecular diagnosis using routine sequencing approaches. To overcome these diagnostic shortcomings, we have utilized next\u2010generation sequencing to provide a high\u2010throughput, highly sensitive assay. We developed a panel interrogating 28 genes encoding cytoskeletal proteins and enzymes with sequencing coverage of the coding regions, splice site junctions, deep intronic and regulatory regions. We then evaluated 19 samples, including infants with unexplained extreme hyperbilirubinaemia and patients with transfusion\u2010dependent haemolytic anaemia. Where possible, inheritance patterns of pathogenic mutations were determined by sequencing of immediate relatives. We conclude that this next\u2010generation sequencing panel could be a cost\u2010effective approach to molecular diagnosis of hereditary haemolytic anaemia, especially when the family history is uninformative or when routine laboratory testing fails to identify the causative haemolytic process.<\/jats:p>","DOI":"10.1111\/bjh.14131","type":"journal-article","created":{"date-parts":[[2016,6,13]],"date-time":"2016-06-13T03:36:53Z","timestamp":1465789013000},"page":"806-814","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":83,"title":["Clinical utility of next\u2010generation sequencing in the diagnosis of hereditary haemolytic anaemias"],"prefix":"10.1111","volume":"174","author":[{"given":"Archana M.","family":"Agarwal","sequence":"first","affiliation":[{"name":"Department of Pathology University of Utah and ARUP Laboratories Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto H.","family":"Nussenzveig","sequence":"additional","affiliation":[{"name":"Associated Regional and University Pathologists (ARUP) Laboratories Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noel S.","family":"Reading","sequence":"additional","affiliation":[{"name":"Associated Regional and University Pathologists (ARUP) Laboratories Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay L.","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Utah and ARUP Laboratories Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikhil","family":"Sangle","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Western University London ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed E.","family":"Salama","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Utah and ARUP Laboratories Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef T.","family":"Prchal","sequence":"additional","affiliation":[{"name":"Division of Hematology Department of Medicine University of Utah Health Sciences Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherrie L","family":"Perkins","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Utah and ARUP Laboratories Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan M.","family":"Yaish","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology Department of Pediatrics University of Utah School of Medicine Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert D.","family":"Christensen","sequence":"additional","affiliation":[{"name":"Divisions of Neonatology and Hematology Oncology University of Utah School of Medicine Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.07091.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199511023331802"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2014.68"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2013.03.005"},{"key":"e_1_2_7_7_1","volume-title":"Hematology: Basic Principles and Practice","author":"Gallagher P.G.","year":"2012"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2014.10.006"},{"key":"e_1_2_7_9_1","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1182\/blood.V85.3.634.bloodjournal853634","article-title":"Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane\u2010associated band 3 and to the phenotype of hereditary spherocytosis","volume":"85","author":"Jarolim P.","year":"1995","journal-title":"Blood"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.12070"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2000.02416.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.12223"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630260701297071"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1995.tb05583.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.499"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000365586"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61588-3"},{"key":"e_1_2_7_19_1","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1182\/asheducation-2005.1.19","article-title":"Red cell enzymes","volume":"1","author":"Prchal J.T.","year":"2005","journal-title":"Hematology American Society Hematology Education Program"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1994.tb05070.x"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2009.10.012"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt1486"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.14.5171"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-014-2123-z"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119041"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-5-50"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbjh.14131","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.14131","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T12:57:37Z","timestamp":1696251457000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.14131"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,12]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1111\/bjh.14131"],"URL":"https:\/\/doi.org\/10.1111\/bjh.14131","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,12]]},"assertion":[{"value":"2016-01-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-03-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-06-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}