weak D type 1

Structure

RHD(V270G)

Key changes from standard allele

809T>G (V270G)

ISBT allele designation

RHD*01W.1
RHD*weak D type 1

Nucleotide changes relative to "standard RHD"

809 T>G

Amino acid changes relative to standard protein

Val to Gly at codon 270

V270G

Haplotype (typical)

CDe

Allele cluster

Eurasian D cluster

Descriptions

First submission to GenBank: 2006 AJ428455 (submitted 2002-01-14, released 2006-11-14)

First full publication: 1999 Wagner FF et. al. Blood. 1999 Jan 1;93(1):385-93.

ISBT group

weak D

Phenotype characterization and grouping

weak D type; weakened D expression

Serology

533-1283 antigens / cell (25 samples, 6 antibodies) Rhesus Index 0.57 Wagner FF et. al. Blood. 2000 Apr 15;95(8):2699-708.
2 samples, 22 to 50 antibodies, 12 laboratories Rhesus Index 0.42 to 0.44 Flegel WA et. al. Transfus Clin Biol. 2002 Jan;9(1):33-42.
variable reactivity (4+ to O) in routine typing (mostly 3+) 6 samples with anti-D: All probable auto-anti-D. Two of 121 samples had cDe phenotype. Pham BN et. al. Transfusion. 2011 Dec;51(12):2679-85.

Observations

Austria (general): Frequent among Australian weak D samples Cowley NM et. al. Vox Sang. 2000;79(4):251-2.
Croatia (general): Second most frequent weak D type (38% of weak D samples) Dogic V et. al. Transfus Med. 2011 Aug;21(4):278-9.
France (general): Most frequent allele found among weak and partial D samples Ansart-Pirenne H et. al. Transfusion. 2004 Sep;44(9):1282-6.
Linz region: 72 of 201 weak D samples Polin H et. al. Transfusion. 2007 Aug;47(8):1350-5.
Northern Germany: 65% of weak D samples Muller TH et. al. Transfusion. 2001 Jan;41(1):45-52.
South-Western Germany: Most frequent weak D allele Wagner FF et. al. Blood. 1999 Jan 1;93(1):385-93. Frequency 1:277
Tyrol: 33 % of weak D samples Muller TH et. al. Transfusion. 2001 Jan;41(1):45-52.
Switzerland (general): Hustinx H personal communication 26.7.2013
Switzerland (general): [..] haben wir unterdessen 2 weitere Fälle abgeklärt. Bei beiden Patienten konnten wir ein weak D Typ 1 (BAGene) nachweisen und den Phänotyp ccD.ee. Die Sequenzierung der Exone 1-10 zeigte nur die Mutation 809 T>G in Exon 6. Hustinx H personal communication 26.7.2013
Switzerland (general): weak D in cDe. [..] Bei beiden Patienten konnten wir ein weak D Typ 1 (BAGene) nachweisen und den Phänotyp ccD.ee. Die Sequenzierung der Exone 1-10 zeigte nur die Mutation 809 T>G in Exon 6. Hustinx H personal communication 26.7.2013

Additional comments

rarely also observed in cDe haplotype

Last update: 2017-02-19 (yyyy-MM-dd)