{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T03:42:31Z","timestamp":1791776551916,"version":"4.3.4"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,5,3]],"date-time":"2017-05-03T00:00:00Z","timestamp":1493769600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Indo French Centre for the Promotion of Advanced Research (IFCPAR\/CEFIPRA)","award":["Project n\u00b05203-1"],"award-info":[{"award-number":["Project n\u00b05203-1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Rh<jats:sub>null<\/jats:sub> phenotype is an extremely rare condition characterized by no expression of Rh antigens at the surface of red blood cells. Although rare, genetic bases of this phenotype are well known and include mutations within either the <jats:italic>RH<\/jats:italic> (<jats:italic>RHD<\/jats:italic> and <jats:italic>RHCE<\/jats:italic>) genes or the <jats:italic>RHAG<\/jats:italic> gene. So far Rh<jats:sub>null<\/jats:sub> has been reported in individuals of Caucasian, African, and Asian origin. Here, we report individuals from two families of Indian origin representing such a rare phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>STUDY DESIGN AND METHODS<\/jats:title><jats:p>Serologic analysis was carried out by testing with anti\u2010D, \u2010C, \u2010c, \u2010E, and \u2010e in Rh<jats:sub>null<\/jats:sub> individuals and their family members. <jats:italic>RH<\/jats:italic> genes were analyzed by standard molecular approaches, including Sanger sequencing and quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments. <jats:italic>RHAG<\/jats:italic> gene was investigated by exon\u2010specific PCR amplification and Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>In one family, <jats:italic>RHAG<\/jats:italic> gene was found to be deleted at the homozygous state in the propositus, suggesting Rh<jats:sub>null<\/jats:sub> of the regulator type. In the other family, a novel splice site variant in <jats:italic>RHCE<\/jats:italic> in cis with whole <jats:italic>RHD<\/jats:italic> gene deletion was identified at the homozygous state. Further functional analysis by minigene splicing assay showed that this variation, that is, c.801\u2009+\u20091G&gt;A, completely impairs normal splicing, then inactivating the expression of RhCE protein. Contrary to the former case, these data suggest Rh<jats:sub>null<\/jats:sub> of the amorph type.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>Overall, we report for the first time the molecular mechanisms responsible for Rh<jats:sub>null<\/jats:sub> phenotype in individuals of Indian origin. This study contributes to extend the molecular spectrum of variations in Rh<jats:sub>null<\/jats:sub> individuals.<\/jats:p><\/jats:sec>","DOI":"10.1111\/trf.14150","type":"journal-article","created":{"date-parts":[[2017,5,4]],"date-time":"2017-05-04T04:22:39Z","timestamp":1493871759000},"page":"1944-1948","source":"Crossref","is-referenced-by-count":10,"title":["First report of Rh<sub>null<\/sub> individuals in the Indian population and characterization of the underlying molecular mechanisms"],"prefix":"10.1111","volume":"57","author":[{"given":"Swati S.","family":"Kulkarni","sequence":"first","affiliation":[{"name":"National Institute of Immunohaematology, Indian Council of Medical Research (NIIH\u2010ICMR) Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kasiviswanathan","family":"Vasantha","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology, Indian Council of Medical Research (NIIH\u2010ICMR) Mumbai 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France"},{"name":"Etablissement Fran\u00e7ais du Sang Bretagne Brest France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9, Centre Hospitalier R\u00e9gional Universitaire (CHRU), H\u00f4pital Morvan Brest France"},{"name":"Facult\u00e9 de M\u00e9decine et des Sciences de la Sant\u00e9, Universit\u00e9 de Bretagne Occidentale (UBO) Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Fichou","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (Inserm), UMR1078 Brest France"},{"name":"Etablissement Fran\u00e7ais du Sang Bretagne Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,5,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781118493595.ch5"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(61)92183-3"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1423-0410.1967.tb03383.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1182\/blood.V36.3.310.310","article-title":"Hematological observations on the anemia associated with blood type Rhnull","volume":"36","author":"Sturgeon P.","year":"1970","journal-title":"Blood"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V63.5.1046.1046"},{"key":"e_1_2_7_7_1","first-page":"350","article-title":"A second example of Rh\u2010null blood","volume":"23","author":"Levine P","year":"1965","journal-title":"Bibl 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