{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,15]],"date-time":"2025-11-15T10:26:12Z","timestamp":1763202372479,"version":"3.40.5"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,6]],"date-time":"2020-05-06T00:00:00Z","timestamp":1588723200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003074","name":"Agencia Nacional de Promoci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","doi-asserted-by":"publisher","award":["PICT 2015\u20102324"],"award-info":[{"award-number":["PICT 2015\u20102324"]}],"id":[{"id":"10.13039\/501100003074","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002923","name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>A highly reduced expression of Rh antigens in the erythrocyte membrane is the main feature of Rh<jats:sub>mod<\/jats:sub>, an extremely rare phenotype. Mutations within <jats:italic>RHAG<\/jats:italic> gene, which encodes RhAG glycoprotein and modulates Rh antigen expression and Rh complex formation, are the molecular events responsible for the Rh<jats:sub>mod<\/jats:sub> phenotype. Here we report a clinical, serologic, and molecular study of an Argentinean proband with Rh\u2010deficiency syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>MATERIALS AND METHODS<\/jats:title><jats:p>Rh antigens, RhAG and CD47 glycoproteins were studied by serologic methods in the proband, her parents and sister. Osmotic fragility and viscoelastic parameters were also examined. <jats:italic>RHD<\/jats:italic> zygosity was analyzed by RFLP\u2010PCR. <jats:italic>RHD<\/jats:italic>, <jats:italic>RHCE,<\/jats:italic> and <jats:italic>RHAG<\/jats:italic> genes were studied by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>No Rh antigens were detected in the proband by standard techniques. However, adsorption\u2010elution and anti\u2010RhAG tests showed that the proposita was Rh<jats:sub>mod<\/jats:sub>. Reduced expression of CD47, enhanced osmotic fragility, and surface viscosity alterations giving rise to spherocytes were observed in the patient. Sequencing analysis showed that a c.920C&gt;T mutation in <jats:italic>RHAG<\/jats:italic> Exon 6 was present in a homozygous state in the proband and in a heterozygous state in the rest of the family. This novel missense mutation caused the p.Ser307Phe amino acid substitution in Transmembrane Segment 10 of the RhAG glycoprotein.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>This comprehensive study determined the causes of the proband\u02bcs anemia allowing the diagnosis of Rh\u2010deficiency syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1111\/trf.15792","type":"journal-article","created":{"date-parts":[[2020,5,7]],"date-time":"2020-05-07T03:19:18Z","timestamp":1588821558000},"page":"1373-1377","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Extensive clinical, serologic and molecular studies lead to the first reported <scp>Rh<sub>mod<\/sub><\/scp> phenotype in Argentina"],"prefix":"10.1111","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9542-4871","authenticated-orcid":false,"given":"Nicol\u00e1s","family":"Mufarrege","sequence":"first","affiliation":[{"name":"Laboratorio de Inmunohematolog\u00eda e Inmunogen\u00e9tica. IDICER \u2013 CONICET Universidad Nacional de Rosario \u2010 Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas  Rosario Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noelia","family":"Franco","sequence":"additional","affiliation":[{"name":"Unidad de Hemato \u2013 Oncolog\u00eda Pedi\u00e1trica Hospital Materno Infantil Dr. H\u00e9ctor Quintana  Jujuy Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3167-6172","authenticated-orcid":false,"given":"Carolina","family":"Trucco Boggione","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunohematolog\u00eda e Inmunogen\u00e9tica. IDICER \u2013 CONICET Universidad Nacional de Rosario \u2010 Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas  Rosario Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carine","family":"Arnoni","sequence":"additional","affiliation":[{"name":"Colsan\u2010Associacao Beneficente de Coleta de Sangue  Sao Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2812-4238","authenticated-orcid":false,"given":"Tatiane","family":"de Paula Vendrame","sequence":"additional","affiliation":[{"name":"Colsan\u2010Associacao Beneficente de Coleta de Sangue  Sao Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Bartoli","sequence":"additional","affiliation":[{"name":"Centro Regional de Hemoterapia  Jujuy Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandra","family":"Ensinck","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunohematolog\u00eda e Inmunogen\u00e9tica. IDICER \u2013 CONICET Universidad Nacional de Rosario \u2010 Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas  Rosario Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cintia","family":"Principi","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunohematolog\u00eda e Inmunogen\u00e9tica. IDICER \u2013 CONICET Universidad Nacional de Rosario \u2010 Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas  Rosario Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melina","family":"Lujan Brajovich","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunohematolog\u00eda e Inmunogen\u00e9tica. IDICER \u2013 CONICET Universidad Nacional de Rosario \u2010 Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas  Rosario Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stella","family":"Mattaloni","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunohematolog\u00eda e Inmunogen\u00e9tica. IDICER \u2013 CONICET Universidad Nacional de Rosario \u2010 Facultad de Ciencias Bioqu\u00edmicas y Farmac\u00e9uticas  Rosario Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bibiana","family":"Riquelme","sequence":"additional","affiliation":[{"name":"\u00c1rea F\u00edsica Grupo de F\u00edsica Biom\u00e9dica, IFIR (CONICET\u2010UNR). 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