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RHD * DOL1 and RHD * DOL2 encode a partial D antigen and are in cis with the rare RHCE * ceBI allele in people of African descent
Author(s) -
Roussel Michèle,
Poupel Sylvie,
Nataf Joëlle,
Juszczak Geneviève,
Woimant Geneviève,
Mailloux Agnès,
Menanteau Cécile,
Pham BachNga,
Rouger Philippe,
Le Pennec PierreYves,
Peyrard Thierry
Publication year - 2013
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/j.1537-2995.2012.03743.x
Subject(s) - allele , genetics , gene , african descent , genetic linkage , biology , antigen , linkage (software) , genotype , sociology , anthropology
BACKGROUND: Several studies showed in people of African descent the existence of a genetic linkage between RHD alleles encoding a variant D antigen and a given altered RHCE * ce allele. RHCE * ceBI is a rare allele encountered in people of African descent, that encodes a Hr– hr S – Rhce protein. Our study shows that RHCE * ceBI appears to be genetically linked to two very similar variant RHD alleles, RHD * DOL1 and RHD * DOL2 , and demonstrates for the first time that DOL‐2 is a partial D antigen. STUDY DESIGN AND METHODS: After finding out an individual with both RHCE * ceBI and RHD * DOL presumed to be in cis, we hypothesized a genetic linkage between those two genes. All individuals (n = 7) known to carry RHCE * ceBI in our laboratory, including the index case, were fully investigated at the serologic and molecular level. RESULTS: One individual with alloanti‐D, being homozygous for RHCE * ceBI and RHD * DOL2 , allowed us to confirm the genetic linkage between those two genes, as well as the partial D status of DOL‐2. In the six RHCE * ceBI remaining individuals, three were found with RHD * DOL2 and 3 with RHD * DOL1 , likely in cis. Three of them made an alloanti‐D; one was DOL‐1 and two were DOL‐2. CONCLUSION: The rare RHCE * ceBI allele appears to be in cis either with RHD * DOL1 or with RHD * DOL2 in people of African descent. DOL‐1 and DOL‐2 must be considered as partial D antigens. We recommend a systematic search for RHD * DOL1 and RHD * DOL2 in people found to carry RHCE * ceBI and vice versa, especially in patients with sickle cell disease.