{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T16:20:07Z","timestamp":1783354807444,"version":"3.54.6"},"reference-count":30,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,9,17]],"date-time":"2018-09-17T00:00:00Z","timestamp":1537142400000},"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":["Transfusion"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:sec><jats:title>INTRODUCTION<\/jats:title><jats:p>\n<jats:italic>KLF1<\/jats:italic> is an essential transcriptional activator that drives erythropoiesis. <jats:italic>KLF1<\/jats:italic> variants can result in the Inhibitor of Lutheran, or In(Lu), phenotype where red blood cells (RBCs) have reduced BCAM (LU) and CD44 (IN). Other RBC surface molecules also have changed expression; however, there is controversy in the literature regarding which are truly impacted. We aimed to investigate <jats:italic>KLF1<\/jats:italic> variants in the Australian population.<\/jats:p><\/jats:sec><jats:sec><jats:title>STUDY DESIGN AND METHODS<\/jats:title><jats:p>In(Lu) samples were sourced through screening and through the RBC reference laboratory. Blood donor samples (8036) were screened to identify weakened\/absent Lu<jats:sup>b<\/jats:sup> antigen. Samples were genotyped by massively parallel sequencing, while surface carbohydrates and blood group molecules were assessed by flow cytometry. Hemoglobin (Hb) types were analyzed by high\u2010performance liquid chromatography.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>Four of 8036 donors were identified to be In(Lu), and two previously identified In(Lu) samples were provided from the RBC reference laboratory. Five different <jats:italic>KLF1<\/jats:italic> variants were identified; two were novel: c.954G&gt;C\/p.Trp318Cys and c.421C&gt;T\/p.Arg141*. BCAM and CD44 were reduced in all samples, consistent with previous reports. As a group, In(Lu) RBCs had reduced CD35 (KN), ICAM4 (LW), and CD147 (OK), and demonstrated increased binding of lectins ECA and SNAI. One In(Lu) sample had elevated HbF and another elevated HbA2.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>Different <jats:italic>KLF1<\/jats:italic> variants may potentially produce variable phenotypes. A framework for investigating <jats:italic>KLF1<\/jats:italic> variants and their phenotypic impact has been provided. In the future, given available international databases, further testing algorithms (as advocated here) will allow for correlation of phenotype with genotype and therefore accurately document this variability between <jats:italic>KLF1<\/jats:italic> variants.<\/jats:p><\/jats:sec>","DOI":"10.1111\/trf.14926","type":"journal-article","created":{"date-parts":[[2018,9,17]],"date-time":"2018-09-17T18:01:45Z","timestamp":1537207305000},"page":"2414-2420","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Investigation of the variable In(Lu) phenotype caused by <i>KLF1<\/i> variants"],"prefix":"10.1111","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5226-601X","authenticated-orcid":false,"given":"Nicole S.","family":"Fraser","sequence":"first","affiliation":[{"name":"Research and Development Australian Red Cross Blood Service"},{"name":"School of Biomedical Science, Faculty of Health Queensland University of Technology  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Knauth","sequence":"additional","affiliation":[{"name":"Research and Development Australian Red Cross Blood Service"},{"name":"School of Biomedical Science, Faculty of Health Queensland University of Technology  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0461-6841","authenticated-orcid":false,"given":"Elizna M.","family":"Schoeman","sequence":"additional","affiliation":[{"name":"Research and Development Australian Red Cross Blood Service"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Assia","family":"Moussa","sequence":"additional","affiliation":[{"name":"Research and Development Australian Red Cross Blood Service"},{"name":"School of Biomedical Science, Faculty of Health Queensland University of Technology  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3644-7093","authenticated-orcid":false,"given":"Andrew C.","family":"Perkins","sequence":"additional","affiliation":[{"name":"Australian Centre for Blood Diseases Monash University  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry","family":"Walsh","sequence":"additional","affiliation":[{"name":"School of Biomedical Science, Faculty of Health Queensland University of Technology  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3809-9662","authenticated-orcid":false,"given":"Glenda M.","family":"Millard","sequence":"additional","affiliation":[{"name":"Research and Development Australian Red Cross Blood Service"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melinda M.","family":"Dean","sequence":"additional","affiliation":[{"name":"Research and Development Australian Red Cross Blood Service"},{"name":"School of Biomedical Science, Faculty of Health Queensland University of Technology  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4124-6168","authenticated-orcid":false,"given":"Catherine A.","family":"Hyland","sequence":"additional","affiliation":[{"name":"Research and Development Australian Red Cross Blood Service"},{"name":"School of Biomedical Science, Faculty of Health Queensland University of Technology  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7257-1844","authenticated-orcid":false,"given":"Robert L.","family":"Flower","sequence":"additional","affiliation":[{"name":"Research and Development Australian Red Cross Blood Service"},{"name":"School of Biomedical Science, Faculty of Health Queensland University of Technology  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-03-331371"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-01-694331"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1423-0410.1967.tb03788.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1423-0410.1973.tb03855.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1537-2995.1986.26286152909.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1537-2995.1999.39070751.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.13990"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-04-349985"},{"key":"e_1_2_8_10_1","unstructured":"International Society of Blood Transfusion. 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