In:
Transfusion, Wiley, Vol. 56, No. 4 ( 2016-04), p. 950-955
Abstract:
The Rhesus (Rh) complex consists of a core comprising the Rh proteins (RhD/RhCE) and the Rh‐associated glycoprotein (RhAG) with accessory chains (GPB, LW, CD47). Molecular defects of the RHAG gene may cause a regulator Rh null phenotype without Rh antigen expression or a Rh mod phenotype with decreased Rh antigen expression. STUDY DESIGN AND METHODS Blood samples of a donor with strongly diminished Rh antigens and five family members were analyzed by serological phenotyping, flow cytometry, molecular testing, and gene expression analysis of Rh complex candidate genes. RESULTS RHAG sequencing identified a missense mutation, c.241G 〉 C (p.Gly81Arg) and a splice site mutation, c.640 + 3del14 , among the cohort. Compound heterozygosity of these novel alleles identified in the propositus and two siblings gave rise to a strongly diminished expression of RhAG, Rh, and CD47 antigens on the RBC surface. CONCLUSION The Rh mod phenotype was caused by a novel RHAG splice site mutation in association with a non‐functional allele. The primary depression of RhAG is most likely due to posttranslational events that affect the interaction and processing of the RhAG glycoprotein and gave rise to a secondary depression of RhD, RhCE, and CD47, the major members of the Rh complex.
Type of Medium:
Online Resource
ISSN:
0041-1132
,
1537-2995
DOI:
10.1111/trf.2016.56.issue-4
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
2018415-3
