RHD(M295I)

Structure

RHD(M295I)

Key changes from standard allele

885G>T (M295I)

ISBT allele designation

RHD*11
RHD*weak partial 11

Nucleotide changes relative to "standard RHD"

885 G>T

Amino acid changes relative to standard protein

Met to Ile at codon 295

M295I

Haplotype (typical)

CDe

Allele cluster

Eurasian D cluster

Descriptions

First full publication: 2001 Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.

ISBT group

partial RHD

Phenotype characterization and grouping

DEL; Partial D

Serology

Kormoczi GF et. al. Transfusion. 2005 Oct;45(10):1561-7.
DEL Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.
DEL Wagner FF & et al. Vox Sanguinis (2012) 103 (Suppl. 1), 1â??271 Abstract 3C-S8-04

Observations

South-Western Germany: Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16. Frequency 1:6.493
Croatia (general): 3% of weak D /DEL samples Dogic V et. al. Transfus Med. 2011 Aug;21(4):278-9.
Tunisia (general): 2 of 448 seemingly D negative samples Moussa H et. al. Transfus Med. 2012 Mar 16. doi: 10.1111/j.1365-3148.2012.01142.x.
Canada (general): 1 of about 4000 D negative donors St-Louis R & et al. Vox Sanguinis (2012) 103 (Suppl. 1), 1â??271 Abstract 3C-S8-03
Northern Germany: Wagner FF & et al. Vox Sanguinis (2012) 103 (Suppl. 1), 1â??271 Abstract 3C-S8-04

Additional comments

RHD(M295I) occurs in two haplotypes with different phenotypes. In the CDe haplotype, antigen density is borderline weak D / DEL, it is a partial DEL, as allo-anti-D-immunization has been reported. In the cDe haplotype, antigen density is much higher, resulting in a weak D like phenotype (weak D type 11).

Last update: 2012-08-26 (yyyy-MM-dd)