{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T04:48:41Z","timestamp":1791175721093,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2004,10,22]],"date-time":"2004-10-22T00:00:00Z","timestamp":1098403200000},"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":[[2004,11]]},"abstract":"<jats:p><jats:bold>BACKGROUND:\u2002<\/jats:bold> The red blood cells of the McLeod phenotype have weak expression of Kell System antigens due to no expression of XK protein.<\/jats:p><jats:p><jats:bold>STUDY DESIGN AND METHODS:\u2002<\/jats:bold> One blood donor reacted as K:\u20104 [Kp(b\u2013)] during a screening assay. Subsequent serologic studies demonstrated weak expression of K:4 and all other high\u2010incidence Kell system antigens tested; however, no expression of Kx antigen was observed.<\/jats:p><jats:p><jats:bold>RESULTS:\u2002<\/jats:bold> One apparently healthy blood donor demonstrated low expression of K:2, K:4, K:5, K:7, K:14, K:22, and no Kx antigen in his red blood cells. His brother and mother showed the same weak expression, and his father showed normal expression of antigens tested. Flow cytometry studies confirmed the mother's status as a McLeod carrier female. Genotyping determined the presence of <jats:italic>KEL2<\/jats:italic> and <jats:italic>KEL4<\/jats:italic> alleles in mother and siblings. Southern blot with an exon\u20101 probe showed fragments shorter than predicted for the siblings and the mother, suggesting a deletion. Polymerase chain reaction with primers spanning exon 1 and flanking regions displayed a similar pattern. Deoxyribonucleic acid sequence allowed the precise characterization of a deletion of 392 bp, beginning at the 5\u2032 of the coding region up to nucleotide 201 of exon 1, which putatively abrogates the production of XK protein.<\/jats:p><jats:p><jats:bold>CONCLUSION:\u2002<\/jats:bold>  Two brothers with McLeod phenotype in a Brazilian blood\u2010donor population were identified. The molecular basis for this phenotype is a 392\u2010bp deletion spanning from 5\u2032 of the coding region to exon 1 of the <jats:italic>XK<\/jats:italic> gene, never described before.<\/jats:p>","DOI":"10.1111\/j.1537-2995.2004.03259.x","type":"journal-article","created":{"date-parts":[[2004,10,22]],"date-time":"2004-10-22T17:34:51Z","timestamp":1098466491000},"page":"1579-1587","source":"Crossref","is-referenced-by-count":6,"title":["A McLeod phenotype detected by random screening for K:\u20104 [Kp(b\u2013)] blood donors in Brazil"],"prefix":"10.1111","volume":"44","author":[{"given":"Silvano","family":"Wendel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Font\u00e3o\u2010Wendel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Eduardo","family":"Levi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Giselda","family":"Aravechia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta F.S.","family":"Bordokan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica Santoro","family":"Haddad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,22]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1423-0410.1961.tb03203.x"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)67688-4"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1988.tb04191.x"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1985.tb07337.x"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1995.0931m.x"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.22.13950"},{"key":"e_1_2_7_8_2","first-page":"250","article-title":"Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinis pigmentosa, and McLeod syndrome","volume":"37","author":"Francke U","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V81.10.2804.2804"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90136-8"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00867584"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1977.tb00642.x"},{"key":"e_1_2_7_13_2","first-page":"13","article-title":"Neuroacanthocytosis: a clinical, haematological and pathological study of 19 cases","volume":"114","author":"Hardie RJ","year":"1991","journal-title":"Brain"},{"key":"e_1_2_7_14_2","unstructured":"MarshWL.Deleted antigens of the Rhesus and Kell blood groups: association with cell membrane defects. 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