Author/Editor		Gassner, Christoph; Doescher, Andrea; Dovč-Drnovšek, Tadeja; Rožman, Primož; Eicher, Nicole I; Legler, Tobias J; Lukin, Sergey; Garritsen, Henk; Kleinrath, Thomas; Egger, Bernd
Title		Presence of RHD in serologically D-, C/E+ individuals: a European multicenter study
Type		članek
Source		Transfusion
Vol. and No.		Letnik 45
Publication year		2005
Volume		str. 527-38
Language		eng
Abstract		Background: RHD blood group alleles with reduced or absent antigen expression are a clinically significant and heterogeneous group. Study desingn and methods: To detail population genetics data on apparently D- individuals in central Europe, a six-center study was performed with participants from Austria, Germany, Slovenia, Switzerland, and Russia. A total of 1700 serologically D- samples, positive for C and/or E, were investigated. Results: Observed unexpressed RHD alleles were 59 RHD-CE-D+ hybrid alleles, 9 apparently regular RHD, 1 new RHD(Y401 X); DELs were 8 RHD(M295I), 6 RHD(IVS3+1G>A), and 1 new RHD(X418L); and weakly expressed RHDs were 2 weak D type 5, 1 weak D type 1, 1 RHD category VI type 1, and 1 novel weak D type 26. Although weak D type 26 was shown to have one of the lowest D antigen densities ever observed, it gave rise to anti-D immunization in a transfused D- individual. Conclusion: The relative occurrence of RHD among serologically D-samples, positive for C and/or E, differed significantly in the investigated central European regions. Considering the growing use of molecular typing techniques, correct identification of blood group alleles with scarce or missing antigen expression is of utmost clinical importance and requires reliable population-based frequency data.
Descriptors		RH-HR BLOOD-GROUP SYSTEM ALLELES EXONS SEQUENCE ANALYSIS, DNA BLOOD DONORS MULTICENTER STUDIES FLOW CYTOMETRY AUSTRIA GERMANY SWITZERLAND IGG RUSSIA SLOVENIA