Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management
Background and Objectives Variant RHD genes associated with the weak D phenotype can result in complete or partial D‐epitope expression on the red cell. This study examines the genetic classification in Australian blood donors with a weak D phenotype and correlates RHD variants associated with the w...
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| Veröffentlicht in: | Vox sanguinis 2017-04, Vol.112 (3), p.279-287 |
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| creator | McGowan, E. C. Lopez, G. H. Knauth, C. M. Liew, Y.‐W. Condon, J. A. Ramadi, L. Parsons, K. Turner, E. M. Flower, R. L. Hyland, C. A. |
| description | Background and Objectives
Variant RHD genes associated with the weak D phenotype can result in complete or partial D‐epitope expression on the red cell. This study examines the genetic classification in Australian blood donors with a weak D phenotype and correlates RHD variants associated with the weak D phenotype against D‐epitope profile.
Materials and Methods
Following automated and manual serology, blood samples from donors reported as ‘weak D’ (n = 100) were RHD genotyped by a commercial SNP‐typing platform and Sanger sequencing. Two commercial anti‐D antibody kits were used for extended serological testing for D‐epitope profiles.
Results
Three samples had wild‐type RHD exonic sequences, and 97 samples had RHD variants. RHD*weak D type 1, RHD*weak D type 2 or RHD*weak D type 3 was detected in 75 donors. The remaining 22 samples exhibited 17 different RHD variants. One donor exhibited a novel RHD*c.939+3A>C lacking one D‐epitope. Weak D types 1·1, 5, 15, 17 and 90 showed a partial D‐epitope profile.
Conclusion
The array of RHD variants detected in this study indicated diversity in the Australian donor population that needs to be accommodated for in future genotyping strategies. |
| doi_str_mv | 10.1111/vox.12488 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1891862145</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1891862145</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3868-2331ea533ff87ff980e6c1ab8f9fcd924b23efaa1cce73d19238d497c08b019e3</originalsourceid><addsrcrecordid>eNqN0U1rFTEUBuAgir22LvwDEnCji2lPPmYm4670qi0UClLF3ZDJnNjUmWSazNzr_fem3taFIHg24cCTFw4vIa8YHLM8J5vw85hxqdQTsmKSiwIkg6dkBSB50QDUB-RFSrcAoLgqn5MDrjiHksGK7NZugzEh1b6nPmxwoJ_P13Sjo9N-TtR5erqkOeoh77QbQuhpH3yIiW7dfEM13aL-Qdd0ukEf5t2E76kbp8EZPbvgqQ2R5t8-2SXd76P2-juO6Ocj8szqIeHLh_eQfPn44frsvLi8-nRxdnpZGKEqVXAhGOpSCGtVbW2jACvDdKdsY03fcNlxgVZrZgzWomcNF6qXTW1AdcAaFIfk7T53iuFuwTS3o0sGh0F7DEtqmWqYqjiT5X_QGipZ1iVk-uYvehuW6PMhWSkpGYO6yurdXpkYUopo2ym6Ucddy6C9r67N1bW_q8v29UPi0o3Y_5GPXWVwsgdbN-Du30nt16tv-8hfP9KjbQ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1884411076</pqid></control><display><type>article</type><title>Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management</title><source>MEDLINE</source><source>Access via Wiley Online Library</source><creator>McGowan, E. C. ; Lopez, G. H. ; Knauth, C. M. ; Liew, Y.‐W. ; Condon, J. A. ; Ramadi, L. ; Parsons, K. ; Turner, E. M. ; Flower, R. L. ; Hyland, C. A.</creator><creatorcontrib>McGowan, E. C. ; Lopez, G. H. ; Knauth, C. M. ; Liew, Y.‐W. ; Condon, J. A. ; Ramadi, L. ; Parsons, K. ; Turner, E. M. ; Flower, R. L. ; Hyland, C. A.</creatorcontrib><description>Background and Objectives
Variant RHD genes associated with the weak D phenotype can result in complete or partial D‐epitope expression on the red cell. This study examines the genetic classification in Australian blood donors with a weak D phenotype and correlates RHD variants associated with the weak D phenotype against D‐epitope profile.
Materials and Methods
Following automated and manual serology, blood samples from donors reported as ‘weak D’ (n = 100) were RHD genotyped by a commercial SNP‐typing platform and Sanger sequencing. Two commercial anti‐D antibody kits were used for extended serological testing for D‐epitope profiles.
Results
Three samples had wild‐type RHD exonic sequences, and 97 samples had RHD variants. RHD*weak D type 1, RHD*weak D type 2 or RHD*weak D type 3 was detected in 75 donors. The remaining 22 samples exhibited 17 different RHD variants. One donor exhibited a novel RHD*c.939+3A>C lacking one D‐epitope. Weak D types 1·1, 5, 15, 17 and 90 showed a partial D‐epitope profile.
Conclusion
The array of RHD variants detected in this study indicated diversity in the Australian donor population that needs to be accommodated for in future genotyping strategies.</description><identifier>ISSN: 0042-9007</identifier><identifier>EISSN: 1423-0410</identifier><identifier>DOI: 10.1111/vox.12488</identifier><identifier>PMID: 28220510</identifier><identifier>CODEN: VOSAAD</identifier><language>eng</language><publisher>England: S. Karger AG</publisher><subject>Alleles ; Australia ; Base Sequence ; Blood Donors - statistics & numerical data ; Blood Transfusion ; DNA - chemistry ; DNA - isolation & purification ; DNA - metabolism ; Epitopes - immunology ; Epitopes - metabolism ; Exons ; frequency distribution ; Gene Frequency ; Genotype ; Humans ; Isoantibodies - blood ; Phenotype ; Polymorphism, Single Nucleotide ; Rh-Hr Blood-Group System - genetics ; RHD genotyping ; Rho(D) Immune Globulin - blood ; Sequence Analysis, DNA ; Serologic Tests ; weak D</subject><ispartof>Vox sanguinis, 2017-04, Vol.112 (3), p.279-287</ispartof><rights>2017 International Society of Blood Transfusion</rights><rights>2017 International Society of Blood Transfusion.</rights><rights>Copyright © 2017 International Society of Blood Transfusion</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3868-2331ea533ff87ff980e6c1ab8f9fcd924b23efaa1cce73d19238d497c08b019e3</citedby><cites>FETCH-LOGICAL-c3868-2331ea533ff87ff980e6c1ab8f9fcd924b23efaa1cce73d19238d497c08b019e3</cites><orcidid>0000-0001-8568-0604</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fvox.12488$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fvox.12488$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,781,785,1418,27925,27926,45575,45576</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28220510$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>McGowan, E. C.</creatorcontrib><creatorcontrib>Lopez, G. H.</creatorcontrib><creatorcontrib>Knauth, C. M.</creatorcontrib><creatorcontrib>Liew, Y.‐W.</creatorcontrib><creatorcontrib>Condon, J. A.</creatorcontrib><creatorcontrib>Ramadi, L.</creatorcontrib><creatorcontrib>Parsons, K.</creatorcontrib><creatorcontrib>Turner, E. M.</creatorcontrib><creatorcontrib>Flower, R. L.</creatorcontrib><creatorcontrib>Hyland, C. A.</creatorcontrib><title>Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management</title><title>Vox sanguinis</title><addtitle>Vox Sang</addtitle><description>Background and Objectives
Variant RHD genes associated with the weak D phenotype can result in complete or partial D‐epitope expression on the red cell. This study examines the genetic classification in Australian blood donors with a weak D phenotype and correlates RHD variants associated with the weak D phenotype against D‐epitope profile.
Materials and Methods
Following automated and manual serology, blood samples from donors reported as ‘weak D’ (n = 100) were RHD genotyped by a commercial SNP‐typing platform and Sanger sequencing. Two commercial anti‐D antibody kits were used for extended serological testing for D‐epitope profiles.
Results
Three samples had wild‐type RHD exonic sequences, and 97 samples had RHD variants. RHD*weak D type 1, RHD*weak D type 2 or RHD*weak D type 3 was detected in 75 donors. The remaining 22 samples exhibited 17 different RHD variants. One donor exhibited a novel RHD*c.939+3A>C lacking one D‐epitope. Weak D types 1·1, 5, 15, 17 and 90 showed a partial D‐epitope profile.
Conclusion
The array of RHD variants detected in this study indicated diversity in the Australian donor population that needs to be accommodated for in future genotyping strategies.</description><subject>Alleles</subject><subject>Australia</subject><subject>Base Sequence</subject><subject>Blood Donors - statistics & numerical data</subject><subject>Blood Transfusion</subject><subject>DNA - chemistry</subject><subject>DNA - isolation & purification</subject><subject>DNA - metabolism</subject><subject>Epitopes - immunology</subject><subject>Epitopes - metabolism</subject><subject>Exons</subject><subject>frequency distribution</subject><subject>Gene Frequency</subject><subject>Genotype</subject><subject>Humans</subject><subject>Isoantibodies - blood</subject><subject>Phenotype</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Rh-Hr Blood-Group System - genetics</subject><subject>RHD genotyping</subject><subject>Rho(D) Immune Globulin - blood</subject><subject>Sequence Analysis, DNA</subject><subject>Serologic Tests</subject><subject>weak D</subject><issn>0042-9007</issn><issn>1423-0410</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0U1rFTEUBuAgir22LvwDEnCji2lPPmYm4670qi0UClLF3ZDJnNjUmWSazNzr_fem3taFIHg24cCTFw4vIa8YHLM8J5vw85hxqdQTsmKSiwIkg6dkBSB50QDUB-RFSrcAoLgqn5MDrjiHksGK7NZugzEh1b6nPmxwoJ_P13Sjo9N-TtR5erqkOeoh77QbQuhpH3yIiW7dfEM13aL-Qdd0ukEf5t2E76kbp8EZPbvgqQ2R5t8-2SXd76P2-juO6Ocj8szqIeHLh_eQfPn44frsvLi8-nRxdnpZGKEqVXAhGOpSCGtVbW2jACvDdKdsY03fcNlxgVZrZgzWomcNF6qXTW1AdcAaFIfk7T53iuFuwTS3o0sGh0F7DEtqmWqYqjiT5X_QGipZ1iVk-uYvehuW6PMhWSkpGYO6yurdXpkYUopo2ym6Ucddy6C9r67N1bW_q8v29UPi0o3Y_5GPXWVwsgdbN-Du30nt16tv-8hfP9KjbQ</recordid><startdate>201704</startdate><enddate>201704</enddate><creator>McGowan, E. C.</creator><creator>Lopez, G. H.</creator><creator>Knauth, C. M.</creator><creator>Liew, Y.‐W.</creator><creator>Condon, J. A.</creator><creator>Ramadi, L.</creator><creator>Parsons, K.</creator><creator>Turner, E. M.</creator><creator>Flower, R. L.</creator><creator>Hyland, C. A.</creator><general>S. Karger AG</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QL</scope><scope>7T5</scope><scope>7TM</scope><scope>7U9</scope><scope>C1K</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-8568-0604</orcidid></search><sort><creationdate>201704</creationdate><title>Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management</title><author>McGowan, E. C. ; Lopez, G. H. ; Knauth, C. M. ; Liew, Y.‐W. ; Condon, J. A. ; Ramadi, L. ; Parsons, K. ; Turner, E. M. ; Flower, R. L. ; Hyland, C. A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3868-2331ea533ff87ff980e6c1ab8f9fcd924b23efaa1cce73d19238d497c08b019e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Alleles</topic><topic>Australia</topic><topic>Base Sequence</topic><topic>Blood Donors - statistics & numerical data</topic><topic>Blood Transfusion</topic><topic>DNA - chemistry</topic><topic>DNA - isolation & purification</topic><topic>DNA - metabolism</topic><topic>Epitopes - immunology</topic><topic>Epitopes - metabolism</topic><topic>Exons</topic><topic>frequency distribution</topic><topic>Gene Frequency</topic><topic>Genotype</topic><topic>Humans</topic><topic>Isoantibodies - blood</topic><topic>Phenotype</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Rh-Hr Blood-Group System - genetics</topic><topic>RHD genotyping</topic><topic>Rho(D) Immune Globulin - blood</topic><topic>Sequence Analysis, DNA</topic><topic>Serologic Tests</topic><topic>weak D</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>McGowan, E. C.</creatorcontrib><creatorcontrib>Lopez, G. H.</creatorcontrib><creatorcontrib>Knauth, C. M.</creatorcontrib><creatorcontrib>Liew, Y.‐W.</creatorcontrib><creatorcontrib>Condon, J. A.</creatorcontrib><creatorcontrib>Ramadi, L.</creatorcontrib><creatorcontrib>Parsons, K.</creatorcontrib><creatorcontrib>Turner, E. M.</creatorcontrib><creatorcontrib>Flower, R. L.</creatorcontrib><creatorcontrib>Hyland, C. A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Immunology Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>MEDLINE - Academic</collection><jtitle>Vox sanguinis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>McGowan, E. C.</au><au>Lopez, G. H.</au><au>Knauth, C. M.</au><au>Liew, Y.‐W.</au><au>Condon, J. A.</au><au>Ramadi, L.</au><au>Parsons, K.</au><au>Turner, E. M.</au><au>Flower, R. L.</au><au>Hyland, C. A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management</atitle><jtitle>Vox sanguinis</jtitle><addtitle>Vox Sang</addtitle><date>2017-04</date><risdate>2017</risdate><volume>112</volume><issue>3</issue><spage>279</spage><epage>287</epage><pages>279-287</pages><issn>0042-9007</issn><eissn>1423-0410</eissn><coden>VOSAAD</coden><abstract>Background and Objectives
Variant RHD genes associated with the weak D phenotype can result in complete or partial D‐epitope expression on the red cell. This study examines the genetic classification in Australian blood donors with a weak D phenotype and correlates RHD variants associated with the weak D phenotype against D‐epitope profile.
Materials and Methods
Following automated and manual serology, blood samples from donors reported as ‘weak D’ (n = 100) were RHD genotyped by a commercial SNP‐typing platform and Sanger sequencing. Two commercial anti‐D antibody kits were used for extended serological testing for D‐epitope profiles.
Results
Three samples had wild‐type RHD exonic sequences, and 97 samples had RHD variants. RHD*weak D type 1, RHD*weak D type 2 or RHD*weak D type 3 was detected in 75 donors. The remaining 22 samples exhibited 17 different RHD variants. One donor exhibited a novel RHD*c.939+3A>C lacking one D‐epitope. Weak D types 1·1, 5, 15, 17 and 90 showed a partial D‐epitope profile.
Conclusion
The array of RHD variants detected in this study indicated diversity in the Australian donor population that needs to be accommodated for in future genotyping strategies.</abstract><cop>England</cop><pub>S. Karger AG</pub><pmid>28220510</pmid><doi>10.1111/vox.12488</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0001-8568-0604</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0042-9007 |
| ispartof | Vox sanguinis, 2017-04, Vol.112 (3), p.279-287 |
| issn | 0042-9007 1423-0410 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1891862145 |
| source | MEDLINE; Access via Wiley Online Library |
| subjects | Alleles Australia Base Sequence Blood Donors - statistics & numerical data Blood Transfusion DNA - chemistry DNA - isolation & purification DNA - metabolism Epitopes - immunology Epitopes - metabolism Exons frequency distribution Gene Frequency Genotype Humans Isoantibodies - blood Phenotype Polymorphism, Single Nucleotide Rh-Hr Blood-Group System - genetics RHD genotyping Rho(D) Immune Globulin - blood Sequence Analysis, DNA Serologic Tests weak D |
| title | Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management |
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