{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:50:58Z","timestamp":1760147458455},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,10,19]],"date-time":"2017-10-19T00:00:00Z","timestamp":1508371200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Mutation in the <jats:italic>KLF1<\/jats:italic> gene is the cause of the In(Lu) (Inhibitor of Lutheran) Lu(a\u2013b\u2013) phenotype and more than 60 alleles have been associated with this phenotype. Here we describe findings from investigation of seven cases: six presenting with a Lu(a\u2013b\u2013) phenotype including the historical index case and one referred from a patient with chronic anemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>STUDY DESIGN AND METHODS<\/jats:title><jats:p>Serologic testing was by standard methods. DNA testing included amplification and sequencing of <jats:italic>KLF1<\/jats:italic> and <jats:italic>LU<\/jats:italic> coding regions. A <jats:italic>Stu<\/jats:italic>I polymerase chain reaction\u2013restriction fragment length polymorphism was designed to target c.304T&gt;C in <jats:italic>KLF1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>Five different KLF1 alleles were identified. Three are new: <jats:italic>KLF1*90A<\/jats:italic> (p.Trp30Ter), <jats:italic>KLF*911A<\/jats:italic> (p.Thr304Lys), and <jats:italic>KLF1*304C,318G<\/jats:italic> (p. Ser102Pro, Tyr106Ter) present in two unrelated individuals. Two, including the index case, had c.954dupG (p.Arg319Glufs*34), that is, <jats:italic>KLF1*BGM06<\/jats:italic>. The child with unexplained anemia had c.973G&gt;A (p.Glu325Lys), associated with congenital dyserythropoietic anemia. The common c.304T&gt;C was found in two of the seven samples investigated and in 60 of 100 blood donors.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>Mutations in <jats:italic>KLF1<\/jats:italic> are pleiotropic and although most are benign, others are associated with hematologic abnormalities. We report three new KLF1 alleles associated with benign In(Lu) and document both the molecular basis of the original In(Lu) phenotype using a frozen sample stored for more than 50 years and the cause of unexplained anemia in a child. We also confirm previous observations that c.304C (p.102Pro) is not, by itself, associated with an In(Lu) phenotype in donors self\u2010identified as U.S. minorities.<\/jats:p><\/jats:sec>","DOI":"10.1111\/trf.14378","type":"journal-article","created":{"date-parts":[[2017,10,19]],"date-time":"2017-10-19T05:26:45Z","timestamp":1508390805000},"page":"196-199","source":"Crossref","is-referenced-by-count":9,"title":["Novel mutations in <i>KLF1<\/i> encoding the In(Lu) phenotype reflect a diversity of clinical presentations"],"prefix":"10.1111","volume":"58","author":[{"given":"Jessica","family":"Keller","sequence":"first","affiliation":[{"name":"National Molecular Laboratory American Red Cross Biomedical Services Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunitha","family":"Vege","sequence":"additional","affiliation":[{"name":"Laboratory of Immunohematology and Genomics New York Blood Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trina","family":"Horn","sequence":"additional","affiliation":[{"name":"National Molecular Laboratory American Red Cross Biomedical Services Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret A.","family":"Keller","sequence":"additional","affiliation":[{"name":"National Molecular Laboratory American Red Cross Biomedical Services Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina M.","family":"Leger","sequence":"additional","affiliation":[{"name":"American Red Cross Blood Services Southern California Region Pomona California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Aeschlimann","sequence":"additional","affiliation":[{"name":"Laboratory of Immunohematology and Genomics New York Blood Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Lomas\u2010Francis","sequence":"additional","affiliation":[{"name":"Laboratory of Immunohematology and Genomics New York Blood Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Connie M.","family":"Westhoff","sequence":"additional","affiliation":[{"name":"Laboratory of Immunohematology and Genomics New York Blood Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,10,19]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1992.tb01151.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-03-145672"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.1961.tb00047.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.13.5.2776"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e328358f92e"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12184"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-09-526087"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.630"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-04-345736"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.010"},{"key":"e_1_2_8_12_1","volume-title":"Applied blood group serology","author":"Issitt P","year":"1998"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.13556"},{"key":"e_1_2_8_14_1","unstructured":"International Society of Blood Transfusion (ISBT). List of KLF1 alleles v3.0 160701;2016[cited 2017 Oct 3]. Available from:http:\/\/www.isbtweb.org\/fileadmin\/user_upload\/files-2015\/red%20cells\/blood%20group%20allele%20terminology\/allele%20tables\/KLF1_Alleles_v5.0_170514.pdf."},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.13990"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.12212"},{"key":"e_1_2_8_17_1","volume-title":"Technical manual","author":"Roback JD","year":"2014"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2013.02.006"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22218"},{"key":"e_1_2_8_20_1","first-page":"47A","article-title":"Novel mutations in EKLF\/KLF1 encoding In(Lu) phenotypes","volume":"50","author":"Crowley J","year":"2010","journal-title":"Transfusion"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-03-331371"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V83.3.860.860"}],"container-title":["Transfusion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Ftrf.14378","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/trf.14378","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T16:18:01Z","timestamp":1695572281000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/trf.14378"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,19]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1111\/trf.14378"],"URL":"https:\/\/doi.org\/10.1111\/trf.14378","archive":["Portico"],"relation":{},"ISSN":["0041-1132","1537-2995"],"issn-type":[{"value":"0041-1132","type":"print"},{"value":"1537-2995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10,19]]}}}