Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression.

Autor:	Rijst, Marea V.E., Voorn, Lesley, Veldhuisen, Barbera, Jongerius, John M., Akker, Emile, Schoot, C. Ellen, van der Rijst, Marea V E, van den Akker, Emile, van der Schoot, C Ellen
Předmět:	BLOOD transfusion reaction ANTIGENS GENES ERYTHROBLASTOSIS fetalis
Zdroj:	Transfusion; Oct2019, Vol. 59 Issue 10, pE8-E10, 3p, 1 Graph
Abstrakt:	Vel-negative individuals may become alloimmunized after blood transfusion with Vel-positive blood or through pregnancy after carrying a Vel-positive child, potentially leading to transfusion reactions or to hemolytic disease of the newborn in subsequent pregnancies. (D) Serology analysis with serum of MB46 of p.Leu54Pro in column cards with a Vel-positive donor as positive control (Vel-pos wt/wt) and a homozygote deletion donor as a negative control (Vel-neg / ). From a clinical point of view, it is important to genotype for the c.64 80del mutation to identify Vel-negative RBC donors, as this case again demonstrates that serology might fail to identify donors carrying a missense mutation as Vel very weak. [Extracted from the article]
Databáze:	Complementary Index
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