{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:33:09Z","timestamp":1753878789272,"version":"3.41.2"},"reference-count":37,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,1,18]],"date-time":"2018-01-18T00:00:00Z","timestamp":1516233600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81360093"],"award-info":[{"award-number":["81360093"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study's purposes were to diagnose intractable hemolytic anemia and to provide <jats:italic>guiding<\/jats:italic> treatment for the affected family members. We performed NGS in a panel of 600 genes for blood diseases on a patient with obscure hemolytic anemia and her parents. We confirmed the diagnosis of pyruvate kinase deficiency, identified a novel homozygous mutation of the <jats:italic>PKLR<\/jats:italic> gene (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"NM_000298\">NM_000298<\/jats:ext-link>: exon 6: c.T941C: p.I314T), and ruled out other blood diseases in the Chinese family. Furthermore, amniotic fluid was taken from the mother during the second trimester, and DNA was extracted to analyze the type of <jats:italic>PKLR<\/jats:italic> gene mutation. The proband received cord blood and bone marrow from the second child of the mother for hematopoietic stem cell transplantation and achieved normal hematopoiesis. The genetic characterization analysis and genotype\u2010phenotype correlation study of <jats:italic>PKLR<\/jats:italic> gene suggested that NGS was an effective method to confirm the molecular diagnosis of intractable hemolytic anemia. The identification of the mutation aided in prenatal diagnosis in the second pregnancy and the <jats:italic>effective<\/jats:italic> clinical management of the affected family.<\/jats:p>","DOI":"10.1111\/petr.13143","type":"journal-article","created":{"date-parts":[[2018,1,19]],"date-time":"2018-01-19T04:12:47Z","timestamp":1516335167000},"source":"Crossref","is-referenced-by-count":6,"title":["A novel <i>PKLR<\/i> gene mutation identified using advanced molecular techniques"],"prefix":"10.1111","volume":"22","author":[{"given":"Yunyan","family":"He","sequence":"first","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Guangxi Medical University Guangxi Key Laboratory of Thalassemia Research  Nanning Guangxi Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianming","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Guangxi Medical University Guangxi Key Laboratory of Thalassemia Research  Nanning Guangxi Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonghong","family":"Lei","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Guangxi Medical University Guangxi Key Laboratory of Thalassemia Research  Nanning Guangxi Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siyuan","family":"Jia","sequence":"additional","affiliation":[{"name":"Guangxi Medical University  Nanning Guangxi Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0836-9043","authenticated-orcid":false,"given":"Ning","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Guangxi Medical University Guangxi Key Laboratory of Thalassemia Research  Nanning Guangxi Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,1,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24088"},{"key":"e_1_2_8_3_1","first-page":"100","article-title":"A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non\u2010spherocytic hemolytic anemia","volume":"74","author":"Valentine WN","year":"1961","journal-title":"Trans Assoc Am Physicians"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2007.05.001"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V95.11.3585"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513815.2014.890260"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1179\/102453311X13127324303317"},{"key":"e_1_2_8_8_1","first-page":"53","article-title":"Analysis and prenatal diagnosis of PKLR gene mutations in a family with 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