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• W3159168169 abstract "British Journal of HaematologyVolume 194, Issue 5 p. 803-803 Images In HaematologyFree Access Rh-null phenotype and stomatocytosis Eva-Leonne Göttgens, Corresponding Author Eva-Leonne Göttgens [email protected] orcid.org/0000-0003-0450-0830 Result Laboratory for Clinical Chemistry and Hematology, Amphia, Breda, the NetherlandsSearch for more papers by this authorPeter C. Ligthart, Peter C. Ligthart Department of Immunohematology Diagnostics, Sanquin, Amsterdam, the NetherlandsSearch for more papers by this authorBarbera Veldhuisen, Barbera Veldhuisen Department of Immunohematology Diagnostics, Sanquin, Amsterdam, the NetherlandsSearch for more papers by this authorMartijn Veldthuis, Martijn Veldthuis Department of Red Blood Cell Diagnostics, Sanquin, Amsterdam, the NetherlandsSearch for more papers by this authorMasja de Haas, Masja de Haas Department of Immunohematology Diagnostics, Sanquin, Amsterdam, the NetherlandsSearch for more papers by this authorAdriaan J. van Gammeren, Adriaan J. van Gammeren Result Laboratory for Clinical Chemistry and Hematology, Amphia, Breda, the NetherlandsSearch for more papers by this author Eva-Leonne Göttgens, Corresponding Author Eva-Leonne Göttgens [email protected] orcid.org/0000-0003-0450-0830 Result Laboratory for Clinical Chemistry and Hematology, Amphia, Breda, the NetherlandsSearch for more papers by this authorPeter C. Ligthart, Peter C. Ligthart Department of Immunohematology Diagnostics, Sanquin, Amsterdam, the NetherlandsSearch for more papers by this authorBarbera Veldhuisen, Barbera Veldhuisen Department of Immunohematology Diagnostics, Sanquin, Amsterdam, the NetherlandsSearch for more papers by this authorMartijn Veldthuis, Martijn Veldthuis Department of Red Blood Cell Diagnostics, Sanquin, Amsterdam, the NetherlandsSearch for more papers by this authorMasja de Haas, Masja de Haas Department of Immunohematology Diagnostics, Sanquin, Amsterdam, the NetherlandsSearch for more papers by this authorAdriaan J. van Gammeren, Adriaan J. van Gammeren Result Laboratory for Clinical Chemistry and Hematology, Amphia, Breda, the NetherlandsSearch for more papers by this author First published: 26 April 2021 https://doi.org/10.1111/bjh.17486AboutSectionsPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL As part of a routine prenatal check, a 25-year-old pregnant woman was asked for a blood sample in the 27th week of her pregnancy because of her serologically determined RhD-negative blood group. Fetal genotyping of the RHD gene using cell-free DNA isolated from maternal blood was not possible because real-time PCR revealed a high concentration of RHD DNA, indicating the presence of a maternal RHD gene. Further phenotyping of maternal RhCcEe antigens demonstrated complete absence of these Rh antigens, characteristic of the rare Rh-null phenotype. World-wide fewer than 50 individuals with Rh-null blood are known and Rh-null donors are extremely scarce. Genetic analysis of maternal genomic DNA revealed the presence of normal RHD and RHCE genes and no variants explaining the Rh-null phenotype. Sanger sequencing of the maternal RHAG gene showed a homozygous variant, (NM_000324.2: c.157+1G>A) in the 5′ splice donor site of intron 1 (RHAG*1N.03). RHAG encodes the Rh-associated glycoprotein (RhAG), which has (among others) an indispensable functional role in anchoring Rh proteins to ankyrin and to the spectrin-based cytoskeleton in erythrocytes. This RHAG allele (gnomAD allele frequency in Caucasians: 0·00062) has previously been associated with the Rh-null regulatory phenotype.1 The Rh-null phenotype of the regulatory type is very rare and this is, to our knowledge, the first reported Dutch individual with this phenotype. The patient’s parents and neonate are heterozygous carriers of this RHAG variant. Microscopical analysis of a blood film of the woman revealed the presence of stomatocytes, which is consistent with the Rh-null phenotype (left). An acidified glycerol lysis test of the proband showed increased erythrocyte lysis of the individuals carrying the variant compared to a wild-type reference, demonstrating markedly increased osmotic fragility of the subject’s erythrocytes (right). During the pregnancy, the woman had episodes of mild normocytic to macrocytic anaemia (haemoglobin concentration 111–118 g/l). Although it was unclear whether alloimmunisation could occur, Rh immunoglobulin prophylaxis was given in week 30 of pregnancy and post-partum. The woman has been asked to become a blood donor. Reference 1Chérif-Zahar B, Matassi G, Raynal V, Gane P, Delaunay J, Arrizabalaga B, et al. Rh-deficiency of the regulator type caused by splicing mutations in the human RH50 gene. Blood. 1998; 92: 2535– 40. Volume194, Issue5September 2021Pages 803-803 ReferencesRelatedInformation" @default.
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• W3159168169 title "Rh‐null phenotype and stomatocytosis" @default.
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