1. A novel mutation in RHAG causing Rhnull phenotype in Colombia.
- Author
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Junca, Tatiana Guerrero, Pinilla, Jenny Johanna, Sanjuanelo, Margaret, Lopez, Katerynne, Dezan, Marcia Regina, Peron, Ana Cláudia, Oliveira, Valéria B., Conrado, Marina C. A. V., Rocha, Vanderson, Mendrone‐Júnior, Alfredo, and Dinardo, Carla Luana
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PHENOTYPES , *SINGLE nucleotide polymorphisms , *GENETIC variation , *BLOOD groups , *BLOOD cell count - Abstract
There are two types of Rh SB null sb phenotype: (1) Amorph type: caused by genetic variations affecting I RHD i and I RHCE i ; or (2) Regulator type: secondary to variants in I RHAG i , which encodes Rh-associated glycoprotein (RhAG).1 A functional RhAG is necessary for the expression of Rh antigens and for the proper assembly of Rh proteins on red blood cell membrane. Keywords: RH; RHAG; RHnull EN RH RHAG RHnull E62 E64 3 09/16/21 20210901 NES 210901 BRIEF BACKGROUND Rh SB null sb is a rare inherited condition characterized by the absence of Rh antigens on red blood cell surface causing abnormalities on erythrocyte morphology, commonly stomatocytosis and mild hemolytic anemia. [Extracted from the article]
- Published
- 2021
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