<abstract xmlns="http://www.w3.org/1999/xhtml">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 <italic>SLC14A1</italic> 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 <italic>JK*A/JK*B</italic> based on the Jka/Jkb single nucleotide polymorphism in exon 9 (c.838G>A, p.Asp280Asn). Genomic analysis and cDNA sequencing of her <italic>JK*B</italic> allele revealed a novel single-nucleotide 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 <italic>JK*02N.14,</italic> 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. <italic><bold>Immunohematology</bold></italic><bold>2016;32:91–95.</bold></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 single-nucleotide 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. Immunohematology2016;32:91–95.

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

Immunohematology

A Caucasian  woman with Jk(a+b–) red blood cells, anti-Jk, and a novel  allele c.1038delG

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...

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

Article Category: Review

Data publikacji: 09 paź 2019

Zakres stron: 91 - 95

DOI: https://doi.org/10.21307/immunohematology-2019-051

Słowa kluczowe
Kidd blood group system, human urea transporter, genotyping, antigen phenotype

© 2016 G. Ramsey et al., published by Sciendo

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