SEARCH WITHIN CONTENT
Citation Information : Immunohematology. Volume 32, Issue 3, Pages 91-95, DOI: https://doi.org/10.21307/immunohematology-2019-051
License : (Transfer of Copyright)
Published Online: 09-October-2019
The Kidd blood group on the red blood cell (RBC) glycoprotein urea transporter-B has a growing number of weak and null alleles in its gene SLC14A1 that are emerging from more widespread genotyping of blood donors and patients. We investigated a 64-year-old Caucasian woman of Polish-Czech descent who developed anti-Jkb detected in solid-phase RBC adherence testing within 12 days after 7 units of RBCs were transfused. Her RBCs subsequently typed Jk(a+b–) by licensed reagents and human antisera. Nevertheless, in RBC genotyping (BioArray HEA BeadChip, Immucor, Warren, NJ) performed in our transfusion service on all patients with alloantibodies, her Kidd typing was JK*A/JK*B based on the Jka/Jkb single nucleotide polymorphism in exon 9 (c.838G>A, p.Asp280Asn). Genomic analysis and cDNA sequencing of her JK*B allele revealed a novel singlenucleotide deletion of c.1038G in exon 11, predicting a frameshift and premature stop (p.Thr346Thrfs*5) after translation of nearly 90 percent of the expressed exons 4–11. This allele has been provisionally named JK*02N.14, subject to approval by the International Society of Blood Transfusion Working Party. The site of this variant is closer to the C-terminus than that of any allele associated with the Jk(a–b–) phenotype reported to date. Routine genotyping of patients with RBC alloantibodies can reveal variants posing potential risk of alloimmunization. Continuing investigation of Kidd variants may shed light on the structure of Kidd antigens and the function of urea transporter-B.
1. Daniels G. Human blood groups. 3rd ed. Oxford: WileyBlackwell, 2013:325–35.
2. Reid ME, Lomas-Francis C, Olsson ML. The blood group antigen factsbook. 3rd ed. London: Elsevier, 2013:373–81.
3. Levin EJ, Quick M, Zhou M. Crystal structure of a bacterial homolog of the kidney urea transporter. Nature 2009;462: 757–61.
4. Levin EJ, Cao Y, Enkavi G, et al. Structure and permeation mechanism of a mammalian urea transporter. Proc Natl Acad Sci U S A 2012;109:11194–9.
5. Azouzi S, Gueroult M, Ripoche P, et al. Energetic and molecular water permeation mechanisms of the human red blood cell urea transporter B. PLoS One 2013;8:e82338.
6. Hamilton JR. Kidd blood group system: a review. Immunohematology 2015;31:29–35.
7. Storry JR, chair, Working Party, Red Cell Immunogenetics and Blood Group Terminology. Names for JK (ISBT 009) blood group alleles, v3.0 131028. Amsterdam: International Society of Blood Transfusion, 2013 [accessed December 18, 2015, at http://www.isbtweb.org/working-parties/red-cellimmunogenetics-and-blood-group-terminology].
8. Patnaik SK, Helmberg W, Blumenfeld OO. BGMUT: NCBI dbRBC database of allelic variations of genes encoding antigens of blood group systems. Nucleic Acids Res 2012;40:D1023–9 [accessed December 18, 2015, at http://www.ncbi.nlm.nih. gov/projects/gv/rbc].
9. Hashmi G, Shariff T, Seul M, et al. A flexible array format for large-scale, rapid blood group DNA typing. Transfusion 2005;45:680–8.
10. Wester ES, Storry JR, Olsson ML. Characterization of Jk(a+weak): a new blood group phenotype associated with an altered JK*01 allele. Transfusion 2011:51:380–92.
11. Burgos A, Vege S, Velliquette RW, Lomas-Francis C, Westhoff CM. Serologic and molecular investigation of novel Kidd system alleles in African-Americans (abstract). Transfusion 2013;53(2S):39A–40A.
12. Crews WS, Gould JM, Crowley J, Keller MA, Herman JH. A novel JK*A variant detected only by solid-phase testing (abstract). Transfusion 2013;53(2S):164A.
13. Tormey CA, Stack G. The persistence and evanescence of blood group alloantibodies in men. Transfusion 2009;49:505–12.
14. Guo Z, Wang C, Yan K, et al. The mutation spectrum of the JK-null phenotype in the Chinese population. Transfusion 2013;53:545–53.
15. Keller MA, Crowley JA, Horn T. Kidd antigen discrepancies: genotype-predicted phenotype vs serologic phenotype (abstract). Vox Sang 2014;107(S1):37.
16. Ramsey G, Zinni J, Sumugod RD, Lindholm PF. Utility of routine RBC genotyping for RBC alloantibody problems (abstract). Transfusion 2014;54(2S):47A–48A.
17. Henny C, Lejon Crottet S, Gowland PL, Niederhauser C, Hustinx H. Three novel JK alleles detected in Swiss blood donors (abstract). Vox Sang 2014;107(S1):188.
18. Ma L, Liu YC, Zhu SW, et al. A novel missense mutation nt737T>G of JK gene with Jk(a–b–) phenotype in Chinese blood donors. Transfus Med 2015;25:38–41.
19. Onodera T, Sasaki K, Tsuneyama H, et al. JK null alleles identified from Japanese individuals with Jk(a–b–) phenotype. Vox Sang 2014;106:382–4.
20. DePalma H, Vege S, Hu Z, et al. Identification of novel JK*B variants (abstract). Transfusion 2014;54(2S):45A–46A.
21. Bub CBB, Torres KBT, Aravechia MGA, et al. A novel JK*A allele associated with a typing discrepancy in a Brazilian patient with sickle cell disease (SCD) (abstract). Vox Sang 2015;109(S1):296–7.