weak D type 4.1

Structure

RHD(W16C,T201R,F223V)

Key changes from standard allele

48G>C (W16C)
602C>G (T201R)
667T>G (F223V)
819G>A

ISBT allele designation

RHD*09.04
RHD*DAR4

Nucleotide changes relative to "standard RHD"

c.[48 G>C;602 C>G;667 T>G;819 G>A]

Amino acid changes relative to standard protein

W16C, T201R, F223V, A273A

Haplotype (typical)

cDe

Allele cluster

weak D type 4 cluster

Descriptions

First full publication: 2000 Wagner FF et. al. Blood. 2000 Apr 15;95(8):2699-708. (submitted 1999-08-13)

ISBT group

partial RHD

Phenotype characterization and grouping

weak D type; weakened D expression

Serology

Rhesus Index 0.48 Wagner FF et. al. Blood. 2000 Apr 15;95(8):2699-708.
Usually typed D positive Yu X et. al. Transfusion. 2006 Aug;46(8):1343-51.

Observations

South-Western Germany: Frequent weak D in European and European-derived populations Yu X et. al. Transfusion. 2006 Aug;46(8):1343-51.
Brazil (general): 1 of 369 samples with atypical D expression Arnoni CP et. al. Transfusion. 2014 Apr;54(4):962-9. doi: 10.1111/trf.12557. Epub 2014 Feb 28.

Additional comments

There are considerably doubts that this allele represents a partial D: It is rather frequent in Germany and always typed as D positive but no anti-D immunization event was ever observed. I would be very happy if anybody could hint me to a publication of a anti-D immunization in weak D type 4.1 in order to support the "partial D" classification suggested by ISBT

Last update: 2018-02-19 (yyyy-MM-dd)