Korean J Lab Med.  2008 Aug;28(4):319-324. 10.3343/kjlm.2008.28.4.319.

A Case of ABO*Ael02/O04 Genotype with Typical Phenotype O

• Joo SY
• Shim YS
• Kim MJ
• Kwon HL
• Lee K
• Chang HE
• Song SH
• Park KU
• Song J
• Han KS

• KMID: 854896
• DOI: http://doi.org/10.3343/kjlm.2008.28.4.319

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.

Keyword

Ael; Genotype-phenotype discrepancy; A subgroup

MeSH Terms

ABO Blood-Group System/classification/*genetics
Alleles
Child
Genotype
Heterozygote
Humans
Male
Pedigree
Phenotype
Sequence Analysis, DNA

Figure

• 

  Fig. 1. ABO phenotype and genotype of the family members. The ABO phenotype and genotype determined are indicated below each symbol. Arrow indicates the proband.

Reference

1.Hyun J., Chang HE., Heo SR., Song SH., Park KU., Song J, et al. ABO genotyping using a multiplex single-base primer extension reaction. Korean J Blood Transfus. 2007. 18:79–88. (현정원, 장호은, 허세란, 송상훈, 박경운, 송정한 등. 다중 단일염기 시발체 확장반응을 이용한 ABO 유전자형검사. 대한수혈학회지 2007;18: 79-88.).

2.Brecher ME, editor. Technical manual. 15th ed.Bethesda: American Association of Blood Banks;2005. p. 289–304.

3.Ogasawara K., Yabe R., Uchikawa M., Saitou N., Bannai M., Nakata K, et al. Molecular genetic analysis of variant phenotypes of the ABO blood group system. Blood. 1996. 88:2732–7.

4.Han KS, Park MH, editors. Transfusion Medicine. 3rd ed.Seoul: Korea medical publishing Co.;2006. p. 200–211. (한규섭, 박명희 등. 수혈의학. 제3판. 서울: 고려의학 2006 200-211).

5.Carton JP. Quantitative and thermodynamic study of weak A erythrocyte phenotypes. Rev Fr Transfus Immunohematol. 1976. 18:35–54.

6.Kim SH., Lee DH. A case of Ael with anti-A. Korean J Blood Transfus. 1999. 10:69–75. (김현수 및 이도훈. 항-A항체가 있는 Ael형 1 예. 대한수혈학회지 1999;10: 69-75.).

7.Choi HW., Cho D., Jeon MJ., Lee JS., Song JW., Shin MG, et al. A family study of Ael02 allele expressing different phenotypes depending on co-inherited ABO alleles. Korean J Blood Transfus. 2006. 17:146–52. (최현우, 조덕, 전미정, 이진솔, 송정원, 신명근등. 동반ABO 대립유전자에따라표현형이다른 Ael02를같는가족 1예. 대한수혈학회지 2006;17: 146-52.).

8.Cho D., Shin MG., Yazer MH., Kee SJ., Shin JH., Suh SP, et al. The genetic and phenotypic basis of blood group A subtypes in Koreans. Transfus Med. 2005. 15:329–34.

9.Okiura T., Fukumori Y., Nishimura K., Orimoto C., Fujii K., Nishimukai H. A-elute alleles of the ABO blood group system in Japanese. Leg Med(Tokyo). 2003. 5(S):S207–9.

10.Yamamoto F., Clausen H., White T., Marken J., Hakomori S. Molecular genetic basis of the histo-blood group ABO system. Nature. 1990. 345:229–33.

11.U.S. National library of medicine and the national institutes of health, Entrez Gene. http://www.ncbi.nlm.nih.gov/sites/entrez. (Updated on Jan. 2008.

12.Yamamoto F., McNeill PD., Hakomori S. Genomic organization of human histo-blood group ABO genes. Glycobiology. 1995. 5:51–8.

13.Human genome variation society, Blood group antigen gene mutation database. http://www.ncbi.nlm.nih.gov/projects/gv/rbc/xslcgi.fcgi?cmd=bgmut. (updated on Jan 2008).

14.Olsson ML., Thuresson B., Chester MA. An A^el allele-specific nucleotide insertion at the blood group ABO locus and its detection using a sequence-specific polymerase chain reaction. Biochem Biophys Res Commun. 1995. 216:642–7.

15.Ogasawara K., Yabe R., Uchikawa M., Nakata K., Watanabe J., Takahashi Y, et al. Recombination and gene conversion-like events may contribute to ABO gene diversity causing various phenotypes. Immunogenetics. 2001. 53:190–9.

16.Seltsam A., Hallensleben M., Kollmann A., Burkhart J., Blasczyk R. Systematic analysis of the ABO gene diversity within exons 6 and 7 by PCR screening reveals new ABO alleles. Transfusion. 2003. 43:428–39.

17.Wu GG., Yu Q., Su YQ., Deng ZH., Liang YL., Wei TL, et al. Novel ABO blood group allele with a 767T>C substitution in three generations of a Chinese family. Transfusion. 2005. 45:645–6.

18.Sun CF., Chen DP., Tseng CP., Wang WT., Liu JP. Identification of a novel A^1v-O^1v hybrid allele with G829A mutation in a chimeric individual of AelBel phenotype. Transfusion. 2006. 46:780–9.

19.Sun CF., Yu LC., Chen IP., Chou ML., Twu YC., Wang WT, et al. Molecular genetic analysis for the A^e1 and A³ alleles. Transfusion. 2003. 43:1138–44.

20.Cho HC., Kang SH., Kim YC., Hur M., Shin DH., Lee KM, et al. Molecular genetic analysis of Ael variant phenotype of ABO blood group system. Korean J Blood Transfus. 2003. 14:173–80. (조현찬, 강성하, 김영철, 허미나, 신동훈, 이규만 등. Ael 혈액형의 분자유전학적 분석. 대한수혈학회지 2003;14: 173-80.).

21.Kang SH., Fukumori Y., Ohnoki S., Shibata H., Han KS., Nishimukai H, et al. Distribution of ABO genotypes and allele frequencies in a Korean population. Jpn J Hum Genet. 1997. 42:331–5.

22.Ogasawara K., Bannai M., Saitou N., Yabe R., Nakata K., Takenaka M, et al. Extensive polymorphism of ABO blood group gene: three major lineage of the alleles for the common ABO phenotypes. Hum Genet. 1996. 97:777–83.

23.Olsson ML., Chester MA. Heterogeneity of the blood group Ax allele: genetic recombination of common alleles can result in the Ax phenotype. Transfus Med. 1998. 8:231–8.

24.Li L., Yang MH., Chak KF., Lin PH., Lai CH., Lin KT, et al. Three mis-sense mutations, including a novel 860C>T transition, and allelic enhancement phenomenon associated with ABO blood subgroups A in Taiwan. Transfusion. 2007. 47:1014–21.

25.Olsson ML., Michalewska B., Hellberg A., Walaszczyk A., Chester MA. A clue to the basis of allelic enhancement: occurrence of the A_x subgroup in the offspring of blood group O parents. Transfus Med. 2005. 15:435–42.

26.Hosseini-Maaf B., Irshaid NM., Hellberg A., Wagner T., Levene C., Hustinx H, et al. New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes. Transfusion. 2005. 45:70–81.

27.Hansen T., Namork E., Olsson ML., Chester MA., Heier HE. Different genotypes causing indiscernible patterns of A expression on Ael red blood cells as visualized by scanning immunogold electron microscopy. Vox Sang. 1998. 75:47–51.

28.Yu LC., Twu YC., Chou ML., Chang CY., Wu CY., Lin M. Molecular genetic analysis for the B3 allele. Blood. 2002. 100:1490–2.

29.Kim MY., Kim KH., Lee JN., Hahm KJ., Yoon MS., Han BY, et al. A case of Ael-first report in Korea. Korean J Blood Transfus. 1995. 6:45–51. (김명유, 김광현, 이정녀, 함건주, 윤미숙, 한복연 등. Ael 혈액형 1예- 국내첫보고. 대한수혈학회지 1995;6: 45-51.).