{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T09:35:09Z","timestamp":1771580109224,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2006,9,21]],"date-time":"2006-09-21T00:00:00Z","timestamp":1158796800000},"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":[[2006,11]]},"abstract":"<jats:p><jats:bold>BACKGROUND:<\/jats:bold> The KEL2\/KEL1 (k\/K) blood group polymorphism represents 578C&gt;T in the <jats:italic>KEL<\/jats:italic> gene and Thr193Met in the Kell glycoprotein. Anti\u2010KEL1 can cause severe hemolytic disease of the fetus and newborn. Molecular genotyping for <jats:italic>KEL<\/jats:italic>*<jats:italic>1<\/jats:italic> is routinely used for assessing whether a fetus is at risk. Red blood cells (RBCs) from a KEL:1 blood donor (D1) were found to have abnormal KEL1 expression during evaluation of anti\u2010KEL1 reagents.<\/jats:p><jats:p><jats:bold>STUDY DESIGN AND METHODS:<\/jats:bold> Kell genotyping methods, including <jats:italic>KEL<\/jats:italic> exon\u20036 direct sequencing, were applied. <jats:italic>KEL<\/jats:italic> cDNA from D1 was sequenced. Flow cytometry was used to assess KEL1 and KEL2 RBC expression.<\/jats:p><jats:p><jats:bold>RESULTS:<\/jats:bold> RBCs from the donor, her mother, and an unrelated donor gave weak or negative reactions with some anti\u2010KEL1 reagents. Other Kell\u2010system antigens appeared normal. The three individuals were homozygous for <jats:italic>KEL<\/jats:italic> C578 (<jats:italic>KEL<\/jats:italic>*<jats:italic>2<\/jats:italic>) but heterozygous for a 577A&gt;T transversion, encoding Ser193. They appeared to be <jats:italic>KEL<\/jats:italic>*<jats:italic>2<\/jats:italic> homozygotes by routine genotyping methods. Flow cytometry revealed weak KEL1 expression and normal KEL2, similar to that of <jats:italic>KEL<\/jats:italic>*<jats:italic>2<\/jats:italic> homozygotes.<\/jats:p><jats:p><jats:bold>CONCLUSION:<\/jats:bold> Ser193 in the Kell glycoprotein appears to result in expression of abnormal KEL1, in addition to KEL2. The mutation is not detected by routine Kell genotyping methods and, because of unpredicted KEL1 expression, could lead to a misdiagnosis.<\/jats:p>","DOI":"10.1111\/j.1537-2995.2006.00993.x","type":"journal-article","created":{"date-parts":[[2006,9,21]],"date-time":"2006-09-21T07:44:40Z","timestamp":1158824680000},"page":"1879-1885","source":"Crossref","is-referenced-by-count":19,"title":["A <i>KEL<\/i> gene encoding serine at position 193 of the Kell glycoprotein results in expression of KEL1 antigen"],"prefix":"10.1111","volume":"46","author":[{"given":"Joyce","family":"Poole","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Warke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hein","family":"Hustinx","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Behrouz 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