Extensive clinical, serologic and molecular studies lead to the first reported Rh

Autor:	Nicolás, Mufarrege, Noelia, Franco, Carolina, Trucco Boggione, Carine, Arnoni, Tatiane, de Paula Vendrame, Sonia, Bartoli, Alejandra, Ensinck, Cintia, Principi, Melina, Lujan Brajovich, Stella, Mattaloni, Bibiana, Riquelme, Claudia, Biondi, Lilian, Castilho, Carlos, Cotorruelo
Rok vydání:	2019
Předmět:	Membrane Glycoproteins Rh-Hr Blood-Group System Adolescent Amino Acid Substitution DNA Mutational Analysis Argentina Mutation Missense Humans CD47 Antigen Female Blood Proteins Polymorphism Restriction Fragment Length
Zdroj:	TransfusionREFERENCES. 60(7)
ISSN:	1537-2995
Popis:	A highly reduced expression of Rh antigens in the erythrocyte membrane is the main feature of RhRh 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.No Rh antigens were detected in the proband by standard techniques. However, adsorption-elution and anti-RhAG tests showed that the proposita was RhThis comprehensive study determined the causes of the proband's anemia allowing the diagnosis of Rh-deficiency syndrome.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::5868a99e01a7eb2059270675aaf1f46a https://pubmed.ncbi.nlm.nih.gov/32378229 Zobrazit plný text záznamu Plný text