Artículo
Extensive clinical, serologic and molecular studies lead to the first reported Rhmod phenotype in Argentina
Mufarrege, Nicolas Daniel
; Franco, Noelia; Trucco Boggione, Carolina
; Arnoni, Carine; de PaulaVendrame, Tatiane; Bartoli, Sonia; Ensinck, María Alejandra; Principi, Cintia Soledad
; Luján Brajovich, Melina Eliana
; Mattaloni, Stella Maris
; Riquelme, Bibiana Doris; Biondi, Claudia Silvia; Castilho, Lilian; Cotorruelo, Carlos Miguel
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Fecha de publicación:
05/2020
Editorial:
Wiley Blackwell Publishing, Inc
Revista:
Transfusion
ISSN:
0041-1132
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
BACKGROUND: A highly reduced expression of Rh antigens in the erythrocyte membrane is the main feature of Rhmod, an extremely rare phenotype. Mutations within RHAG gene, which encodes RhAG glycoprotein and modulates Rh antigen expression and Rh complex formation, are the molecular events responsible for the Rhmod phenotype. Here we report a clinical, serologic, and molecular study of an Argentinean proband with Rh-deficiency syndrome. MATERIALS AND METHODS: 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. RHD zygosity was analyzed by RFLP-PCR. RHD, RHCE, and RHAG genes were studied by Sanger sequencing. RESULTS: No Rh antigens were detected in the proband by standard techniques. However, adsorption-elution and anti-RhAG tests showed that the proposita was Rhmod. 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>T mutation in RHAG 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. CONCLUSION: This comprehensive study determined the causes of the probandʼs anemia allowing the diagnosis of Rh-deficiency syndrome.
Palabras clave:
Rhmod
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Articulos(IDICER)
Articulos de INSTITUTO DE INMUNOLOGIA CLINICA Y EXPERIMENTAL DE ROSARIO
Articulos de INSTITUTO DE INMUNOLOGIA CLINICA Y EXPERIMENTAL DE ROSARIO
Articulos(IFIR)
Articulos de INST.DE FISICA DE ROSARIO (I)
Articulos de INST.DE FISICA DE ROSARIO (I)
Citación
Mufarrege, Nicolas Daniel; Franco, Noelia; Trucco Boggione, Carolina; Arnoni, Carine; de PaulaVendrame, Tatiane; et al.; Extensive clinical, serologic and molecular studies lead to the first reported Rhmod phenotype in Argentina; Wiley Blackwell Publishing, Inc; Transfusion; 60; 7; 5-2020; 1373-1377
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