A Caucasian JK*A/JK*B woman with Jk(a+b-) red blood cells, anti-Jkb, and a novel JK*B allele c.1038delG

Glenn Ramsey*, Ricardo D. Sumugod, Paul F. Lindholm, Jules G. Zinni, Jessica A. Keller, Trina Horn, Margaret A. Keller

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)91-95
Number of pages5
JournalImmunohematology
Volume32
Issue number3
StatePublished - 2016

Keywords

  • Antigen phenotype
  • Genotyping
  • Human urea transporter
  • Kidd blood group system

ASJC Scopus subject areas

  • Medicine(all)

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