{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T14:24:09Z","timestamp":1777559049625,"version":"3.51.4"},"reference-count":10,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T00:00:00Z","timestamp":1566345600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T00:00:00Z","timestamp":1566345600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Transfus Med Hemother"],"published-print":{"date-parts":[[2020]]},"abstract":"<b><i>Background:<\/i><\/b> The present report illustrates a case with rare \u201cP null\u201d phenotype due to a large deletion in chromosome 22q13.2 and with clinically significant anti-PP1P<sup>k<\/sup> antibody. Patient blood management in such cases is challenging. <b><i>Case Report:<\/i><\/b> The transfusion center supporting the tertiary care referral center in the southern part of India received a blood sample from a trauma case for pre-transfusion testing. An antibody to a high-frequency blood group antigen was initially suspected. Following extensive immune-hematological workup, the patient was diagnosed to have naturally occurring anti-PP1P<sup>k<\/sup> antibody and a rare \u201cP null\u201d phenotype. The genomic DNA of the patient was analyzed by exome sequencing followed by Sanger\u2019s sequencing. Molecular diagnostics revealed a large 21-bp deletion in chromosome 22q13.2 which encodes the <i>A4GALT<\/i> gene, resulting in truncation of seven amino acids I245\u2013251P and resulted in rare \u201cP null\u201d phenotype. Patient blood management strategies were adopted to manage the patient conservatively without blood transfusion. <b><i>Conclusion:<\/i><\/b> A large deletion in chromosome 22q13.2 had resulted in a rare \u201cP null\u201d phenotype in the present case. The patient was a victim of a road traffic accident, required emergency hospitalization, as well as surgical intervention, and his plasma had antibodies to high-frequency antigens. A rare donor registry plays a major role in providing transfusion support to such cases.<\/jats:p>","DOI":"10.1159\/000501916","type":"journal-article","created":{"date-parts":[[2019,9,23]],"date-time":"2019-09-23T21:00:33Z","timestamp":1569272433000},"page":"186-189","source":"Crossref","is-referenced-by-count":10,"title":["Deletion in the <b><i>A4GALT<\/i><\/b> Gene Associated with Rare \u201cP null\u201d Phenotype: The First Report from India"],"prefix":"10.1159","volume":"47","author":[{"given":"Shamee","family":"Shastry","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kapaettu","family":"Satyamoorthy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiran\u00a0V.","family":"Acharya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijay\u00a0Ram","family":"Reddy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8728-9307","authenticated-orcid":false,"given":"Ganesh","family":"Mohan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chenna","family":"Deepika","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh","family":"Reghunathan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manjunath\u00a0B.","family":"Joshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,8,21]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.4103\/0973-6247.95050"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.10.042"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/1731193a0"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1046\/j.1537-2995.1977.17678075652.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/trf.12771"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/trf.13804"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2007.01552.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s10719-016-9716-9"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/trf.12543"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1046\/j.1537-2995.2003.00565.x"}],"container-title":["Transfusion Medicine and Hemotherapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/501916","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/501916","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:46:40Z","timestamp":1745423200000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000501916"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,21]]},"references-count":10,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2020,4,7]]},"published-print":{"date-parts":[[2020,4,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000501916","archive":["Portico"],"relation":{},"ISSN":["1660-3796","1660-3818"],"issn-type":[{"value":"1660-3796","type":"print"},{"value":"1660-3818","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,21]]}}}