RHD(IVS3+1G>A)

Structure

RHD(IVS3+1G>A)

Key changes from standard allele

IVS3+1G>A

ISBT allele designation

RHD*01EL.08
RHD*DEL8

Nucleotide changes relative to "standard RHD"

486+1 G>A

Amino acid changes relative to standard protein

not applicable

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

DEL

Phenotype characterization and grouping

DEL; D negative

Serology

Almost D negative, D antigen only demonstrable with few monoclonal anti-D (P3X241, P3X249) Kormoczi GF et. al. Transfusion. 2005 Oct;45(10):1561-7.: Anti-D documented
Laycock RA et al. Transf. Med. 2005; S1 : P36: Anti-D detected
DEL Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.

Observations

Linz region: Polin H et. al. Transfusion. 2007 Aug;47(8):1350-5.
Ljubljana region: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38. Frequency 1:2.547
South-Western Germany: Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16. Frequency 1:15.152
Tyrol: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38. Frequency 1:18.550
Poland (general): population frequency 1:5200, 2 of 4 samples DEL, 2 of 4 D negative Orzinska A et. al. Transfusion. 2013 Nov;53(11 Suppl 2):2945-53. doi: 10.1111

Additional comments

Last update: 2017-02-12 (yyyy-MM-dd)