{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:05:48Z","timestamp":1747188348501,"version":"3.40.5"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,4,29]],"date-time":"2019-04-29T00:00:00Z","timestamp":1556496000000},"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 Medicine"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>SUMMARY<\/jats:title><jats:sec><jats:title>Aims\/Objectives<\/jats:title><jats:p>We aimed to analyse the molecular backgrounds and red blood cell (RBC) antigen expression of a male blood donor with Rh<jats:sub>mod<\/jats:sub> phenotype and his family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Background<\/jats:title><jats:p>Rh deficiency phenotypes are rarely found worldwide and are characterised by the lack of Rh antigen expression on RBCs. During routine screening, we found a blood donor who seemingly lacked Rh antigens. Therefore, we recruited the donor and his family for further investigation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>RBC serotyping and antibody screening\/identification were performed for each sample. A routine blood examination was also conducted. <jats:italic>RHD<\/jats:italic>, <jats:italic>RHCE<\/jats:italic> and <jats:italic>RHAG<\/jats:italic> were sequenced at the genomic DNA or RNA level. Eleven antigens or proteins associated with Rh complex were tested using flow cytometry analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband and one of his brothers showed extremely weak D antigen and Rh expression levels but did not manifest anaemia. Most of the expressed RBC antigens of the two Rh\u2010deficient individuals were similar to the previously reported cases but with some exceptions. Molecular analyses demonstrated homozygous expression of a novel <jats:italic>RHAG<\/jats:italic> allele, namely, c.[572G&gt;A;707A&gt;C], both in the proband and one of his  brothers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>To our knowledge, we identified the second double\u2010variant <jats:italic>RHAG<\/jats:italic> allele and the first one related to Rh<jats:sub>mod<\/jats:sub> phenotype. The novel allele was also confirmed to be heritable by family analyses.<\/jats:p><\/jats:sec>","DOI":"10.1111\/tme.12598","type":"journal-article","created":{"date-parts":[[2019,4,29]],"date-time":"2019-04-29T08:44:40Z","timestamp":1556527480000},"page":"460-465","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel double\u2010variant <i>RHAG<\/i> allele leads to Rh<sub>mod<\/sub> phenotype"],"prefix":"10.1111","volume":"29","author":[{"given":"R. W.","family":"Xia","sequence":"first","affiliation":[{"name":"Blood Group Reference Laboratory, Qujing Blood Center  Qujing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. Z.","family":"Xun","sequence":"additional","affiliation":[{"name":"Blood Group Reference Laboratory, Qujing Blood Center  Qujing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Xiang","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Blood Transfusion Shanghai Blood Center  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Blood Transfusion Shanghai Blood Center  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Q. X.","family":"Yang","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Blood Transfusion Shanghai Blood Center  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8044-619X","authenticated-orcid":false,"given":"F. Y.","family":"Zhao","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Blood Transfusion Shanghai Blood Center  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Wang","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Blood Transfusion Shanghai Blood Center  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z. Y.","family":"Zhu","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Blood Transfusion Shanghai Blood Center  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Q.","family":"Li","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Blood Transfusion Shanghai Blood Center  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1037-7912","authenticated-orcid":false,"given":"L. Y.","family":"Ye","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Blood Transfusion Shanghai Blood Center  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,4,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781118493595"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0041-1132.2004.04211.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V92.5.1776"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.14150"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1423-0410.2009.01181.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.13476"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.1967.tb04827.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1423-0410.2009.01243.x"},{"key":"e_1_2_7_10_1","first-page":"167A","article-title":"Identification of a mutation in the RHAG gene of Japanese with weak D phenotype","volume":"53","author":"Tsuneyama H.","year":"2013","journal-title":"Transfusion"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1423-0410.2006.00886.x"},{"key":"e_1_2_7_12_1","first-page":"158A","article-title":"Novel weak D alleles found in China and the reporter gene assay used for the investigation of RHD gene regulation","volume":"56","author":"Ye L.Y.","year":"2016","journal-title":"Transfusion"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2006.00902.x"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2005.04.002"}],"container-title":["Transfusion Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/tme.12598","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/tme.12598","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/tme.12598","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T20:20:57Z","timestamp":1694118057000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/tme.12598"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,29]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1111\/tme.12598"],"URL":"https:\/\/doi.org\/10.1111\/tme.12598","archive":["Portico"],"relation":{},"ISSN":["0958-7578","1365-3148"],"issn-type":[{"type":"print","value":"0958-7578"},{"type":"electronic","value":"1365-3148"}],"subject":[],"published":{"date-parts":[[2019,4,29]]},"assertion":[{"value":"2018-09-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}