RHD(IVS5-38del tctc)

Structure

Key changes from standard allele

IVS5-38del tctc

ISBT allele designation

RHD*01N.58

Nucleotide changes relative to "standard RHD"

c.802-38 del tctc

Amino acid changes relative to standard protein

not applicable

ISBT group

RHD negative

Phenotype characterization and grouping

DEL

Haplotype (typical)

not reported

Allele cluster

Eurasian D cluster

Descriptions

First full publication: 2005 Wagner T et. al. Transfusion. 2005 Apr;45(4):520-6.

Other relevant descriptions:
IVS5-38 del tctc is a neutral polymorphism present in several RHD alleles von Zabern I & Flegel WA Transfusion. 2007 Aug;47(8):1552-5.

Serology

Antigen density < 22 antigens/cell Kormoczi GF et. al. Transfusion. 2005 Oct;45(10):1561-7.
Caused anti-D immunization in a recipient Wagner T et. al. Transfusion. 2005 Apr;45(4):520-6.

Observations

Austria (general): One kindred in Austria Wagner T et. al. Transfusion. 2005 Apr;45(4):520-6.

Additional comments

The causative role of the IVS5-38del4 mutation for the DEL phenotype has been disputed, because the IVS5-38del4 polymorphism was frequently observed in normal D expressing alleles regularly observed among normal D expressing alleles (approximate haplotype frequency 5.8) and some partial D (DFR type 1, DFR type 3)

Last update: 2017-06-06 (yyyy-MM-dd)