{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T14:23:48Z","timestamp":1777559028412,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,2,17]],"date-time":"2025-02-17T00:00:00Z","timestamp":1739750400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Vox Sanguinis"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Objectives<\/jats:title><jats:p>Individuals with the rare p phenotype have red cells lacking P, P1 and P<jats:sup>k<\/jats:sup> antigens and make clinically significant anti\u2010PP1P<jats:sup>k<\/jats:sup>. The phenotype arises from inactivating mutations in <jats:italic>A4GALT<\/jats:italic>, which encodes the enzyme responsible for production of P1 and P<jats:sup>k<\/jats:sup>. We present results from serological and molecular investigations of a case of anti\u2010PP1P<jats:sup>k<\/jats:sup> with a novel molecular background of the p phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Samples from a 32\u2010year\u2010old Indian blood donor were investigated due to the presence of a pan\u2010reactive alloantibody, together with samples from his sister and mother. Standard serological investigations and <jats:italic>A4GALT<\/jats:italic> sequencing were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The donor was found to have p phenotype, and his plasma contained anti\u2010PP1P<jats:sup>k<\/jats:sup>. Sequencing revealed a rare homozygous missense mutation in <jats:italic>A4GALT<\/jats:italic> (c.526G&gt;A; p.Asp176Asn; rs371893172; frequency 0.00007), representing a novel null allele. The sister was heterozygous for this allele, while surprisingly the mother did not carry the allele. Enquiries revealed the mother was not the donor's biological mother, explaining the perceived discrepant sequencing results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We have identified homozygosity for a novel <jats:italic>A4GALT<\/jats:italic> null allele (carrying c.526G&gt;A, p.Asp176Asn), resulting in lack of functional 4\u2010\u03b1\u2010galactosyltransferase and a p phenotype, adding to the catalogue of known genetic backgrounds of this rare phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1111\/vox.70000","type":"journal-article","created":{"date-parts":[[2025,2,17]],"date-time":"2025-02-17T23:18:51Z","timestamp":1739834331000},"page":"509-512","source":"Crossref","is-referenced-by-count":2,"title":["Homozygosity for a novel <i>A4GALT<\/i> allele resulting in the rare p phenotype in an Indian blood donor"],"prefix":"10.1111","volume":"120","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8244-4331","authenticated-orcid":false,"given":"Louise A.","family":"Tilley","sequence":"first","affiliation":[{"name":"International Blood Group Reference Laboratory NHS Blood and Transplant  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1412-9107","authenticated-orcid":false,"given":"Vanja","family":"Karamatic Crew","sequence":"additional","affiliation":[{"name":"International Blood Group Reference Laboratory NHS Blood and Transplant  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Tearle","sequence":"additional","affiliation":[{"name":"International Blood Group Reference Laboratory NHS Blood and Transplant  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2094-6429","authenticated-orcid":false,"given":"Suvro Sankha","family":"Datta","sequence":"additional","affiliation":[{"name":"Tata Medical Center  Kolkata India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8635-0997","authenticated-orcid":false,"given":"Nicole M.","family":"Thornton","sequence":"additional","affiliation":[{"name":"International Blood Group Reference Laboratory NHS Blood and Transplant  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.408286"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.14515"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-08-803080"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tmrv.2006.08.003"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.120.3111.239"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M000728200"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C000625200"},{"key":"e_1_2_9_9_1","unstructured":"International Society of Blood Transfusion (ISBT).Red cell immunogenetics and blood group terminology working party. Blood group allele tables. 003 P1PK alleles. Available from:https:\/\/www.isbtweb.org\/resource\/p1pkalleles.html. Last accessed 29 Aug 2024."},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.adg7492"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"}],"container-title":["Vox Sanguinis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/vox.70000","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T23:39:52Z","timestamp":1748389192000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/vox.70000"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,17]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1111\/vox.70000"],"URL":"https:\/\/doi.org\/10.1111\/vox.70000","archive":["Portico"],"relation":{},"ISSN":["0042-9007","1423-0410"],"issn-type":[{"value":"0042-9007","type":"print"},{"value":"1423-0410","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,17]]}}}