A Case of ABO* cis-AB01/Ax03 Found in A2B3 Phenotype.
- Author:
Min Seok HUR
1
;
Duck CHO
;
Ju Heon PARK
;
Hye Ryoen PARK
;
Myung Geun SHIN
;
Dong Wook RYANG
Author Information
1. Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, Korea. dcho@chonnam.ac.kr
- Publication Type:Case Report
- Keywords:
ABO;
cis-AB;
cis-AB01;
Ax03
- MeSH:
Alleles;
Asian Continental Ancestry Group;
Carcinoma, Hepatocellular;
Edetic Acid;
Exons;
Genotype;
Humans;
Male;
Nuclear Family;
Phenotype;
Siblings
- From:Korean Journal of Blood Transfusion
2013;24(2):181-185
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The cis-AB blood group is rare; however, it is relatively more common in the Korean and Japanese populations. Among nine cis-AB alleles, only the cis-AB01 allele has been reported in the Korean population. When the A2B3 phenotype is found, it has the cis-AB01/O genotype; to date, it has not been reported in any other genotype. Here we report on an extremely rare case of cis-A2B3 found in the cis-AB01/Ax03 genotype. EDTA samples of a 52-year-old male with hepatocellular carcinoma and his family were sent to our laboratory. Standard ABO typing and sequencing of exons 6 and 7 of the ABO gene of the propositus and his family were performed: the propositus with the A2B3 type had cis-AB01/Ax03, brother with O type had O01/O02, sister with O type had Ax03/O01, son with B type had Ax03/B101, and daughter with A1B3 type had cis-AB01/A102. Results based on family study and genotyping revealed that the propositus had both cis-AB01 and Ax03 alleles. This is the first case of A2B3 phenotype with cis-AB01 with an allele other than the O allele in the cis-AB blood group reported so far.
