A Case of ABO*Ael02/O04 Genotype with Typical Phenotype O.
10.3343/kjlm.2008.28.4.319
- Author:
Shin Young JOO
1
;
Yeong Sook SHIM
;
Mi Jung KIM
;
Hye Lin KWON
;
Kyung LEE
;
Ho Eun CHANG
;
Sang Hoon SONG
;
Kyoung Un PARK
;
Junghan SONG
;
Kyou Sup HAN
Author Information
1. Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea. m91w95@dreamwiz.com
- Publication Type:Case Report ; English Abstract
- Keywords:
Ael;
Genotype-phenotype discrepancy;
A subgroup
- MeSH:
ABO Blood-Group System/classification/*genetics;
Alleles;
Child;
Genotype;
Heterozygote;
Humans;
Male;
Pedigree;
Phenotype;
Sequence Analysis, DNA
- From:The Korean Journal of Laboratory Medicine
2008;28(4):319-324
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Ael is a rare blood type which has the least amount of A antigen among A subgroups. It can be detected by special tests performed to resolve the discrepancy between red cell and serum typing in routine serological typing. The presence of A antigen on Ael red cell is demonstrable only by adsorption and elution tests. An Ael individual does not secret A substance in the saliva and may have anti-A antibody in the serum which is usually less reactive with the reagent red cells than anti-B antibody. In Korea, Ael02 has been reported more frequently than other Ael alleles. We report a case of Ael02/O04 who presented as typical phenotype O with strong anti-A and anti-B antibodies and no A antigen detected even by adsorption and elution tests. The case has been proved to be Ael02/O04 by direct sequencing analysis. In individuals with history of discrepancies in the results of ABO phenotyping, ABO genotyping is needed for an accurate evaluation of their blood type.
