BACKGROUND: Besides ABO and RH, the KEL blood group system, including the two antithetical antigens KEL1 and KEL2, is the most important owing to the frequent appearance of anti-KEL alloantibodies and their considerable clinical significance. So far, only limited information was available on KEL variant alleles determining the rare silent KELnull and KELel phenotypes with absent or diminished KEL antigen expression detected only by adsorption-elution techniques, respectively. STUDY DESIGN AND METHODS: For a systematic investigation of the KELnull and KELel phenotypes, 401 KEL:1,-2 samples (representing 2.6% of all Austrian KEL:1,-2 samples) and 811 KEL:1,2 samples were genotyped for the KEL*1/KEL*2-specific single-nucleotide polymorphism. All heterozygous KEL*1/KEL*2 and 4 additional KELnull samples were subjected to detailed immunohematologic examination and allele-specific sequencing. RESULTS: In 14 KEL:1,-2 samples, discrepant KEL*1/KEL*2 heterozygosity was observed, indicating the presence of silent or barely expressed KEL*2 alleles, whereas all KEL:1,2 individuals were homozygous for KEL*2. In the course of further molecular analysis, 8 novel KEL*2null and 2 KEL*2el alleles were discovered, representing 67 and 33 percent of previously known KEL*2null- and KEL*2el-encoding alleles, respectively. In addition, two different known KEL*2null and KEL*2el alleles each were confirmed. The immunohematologic properties of KEL variant red blood cells were defined by extended KEL phenotyping and flow cytometric KEL1, KEL2, KEL4, and KEL7 antigen as well as total Kell protein quantification. CONCLUSION: For the first time, exact KELnull and KELel population frequencies could be established in this population.
BACKGROUND: Besides ABO and RH, the KEL blood group system, including the two antithetical antigens KEL1 and KEL2, is the most important owing to the frequent appearance of anti-KEL alloantibodies and their considerable clinical significance. So far, only limited information was available on KEL variant alleles determining the rare silent KELnull and KELel phenotypes with absent or diminished KEL antigen expression detected only by adsorption-elution techniques, respectively. STUDY DESIGN AND METHODS: For a systematic investigation of the KELnull and KELel phenotypes, 401 KEL:1,-2 samples (representing 2.6% of all Austrian KEL:1,-2 samples) and 811 KEL:1,2 samples were genotyped for the KEL*1/KEL*2-specific single-nucleotide polymorphism. All heterozygous KEL*1/KEL*2 and 4 additional KELnull samples were subjected to detailed immunohematologic examination and allele-specific sequencing. RESULTS: In 14 KEL:1,-2 samples, discrepant KEL*1/KEL*2 heterozygosity was observed, indicating the presence of silent or barely expressed KEL*2 alleles, whereas all KEL:1,2 individuals were homozygous for KEL*2. In the course of further molecular analysis, 8 novel KEL*2null and 2 KEL*2el alleles were discovered, representing 67 and 33 percent of previously known KEL*2null- and KEL*2el-encoding alleles, respectively. In addition, two different known KEL*2null and KEL*2el alleles each were confirmed. The immunohematologic properties of KEL variant red blood cells were defined by extended KEL phenotyping and flow cytometric KEL1, KEL2, KEL4, and KEL7 antigen as well as total Kell protein quantification. CONCLUSION: For the first time, exact KELnull and KELel population frequencies could be established in this population.
Authors: I Tsintsadze; L AKhvlediani; R Khukhunaishvili; M Koridze; S Tskvitinidze; I NakaShidze; K Dolidze; Rusudan Loria; M Nagervadze Journal: Indian J Hematol Blood Transfus Date: 2019-10-04 Impact factor: 0.900
Authors: Edmir Boturão-Neto; Mihoko Yamamoto; Akemi Kuroda Chiba; Elisa Yuriko Sugano Kimura; Maria do Carmo Valgueiro Costa de Oliveira; Cláudia Lumack do Monte Barretto; Mércia Maria Alves Nunes; Sérgio Roberto Lopes Albuquerque; Marcos Daniel de Deus Santos; José Orlando Bordin Journal: Transfus Med Hemother Date: 2014-12-19 Impact factor: 3.747
Authors: Randall W Velliquette; Kim Hue-Roye; Christine Lomas-Francis; Barbara Gillen; Jennifer Schierts; Kristie Gentzkow; Thierry Peyrard; Inge von Zabern; Willy A Flegel; Karen Rodberg; Asim K Debnath; Soohee Lee; Marion E Reid Journal: Transfusion Date: 2013-04-08 Impact factor: 3.157
Authors: Ana Cvejic; Lonneke Haer-Wigman; Jonathan C Stephens; Pim van der Harst; C Ellen van der Schoot; Willem H Ouwehand; Cornelis A Albers; Myrto Kostadima; Peter A Smethurst; Mattia Frontini; Emile van den Akker; Paul Bertone; Ewa Bielczyk-Maczyńska; Samantha Farrow; Rudolf Sn Fehrmann; Alan Gray; Masja de Haas; Vincent G Haver; Gregory Jordan; Juha Karjalainen; Hindrik Hd Kerstens; Graham Kiddle; Heather Lloyd-Jones; Malcolm Needs; Joyce Poole; Aicha Ait Soussan; Augusto Rendon; Klaus Rieneck; Jennifer G Sambrook; Hein Schepers; Herman H W Silljé; Botond Sipos; Dorine Swinkels; Asif U Tamuri; Niek Verweij; Nicholas A Watkins; Harm-Jan Westra; Derek Stemple; Lude Franke; Nicole Soranzo; Hendrik G Stunnenberg; Nick Goldman Journal: Nat Genet Date: 2013-04-07 Impact factor: 38.330
Authors: Christoph Gassner; Frauke Degenhardt; Stefan Meyer; Caren Vollmert; Nadine Trost; Kathrin Neuenschwander; Yvonne Merki; Claudia Portmann; Sonja Sigurdardottir; Antigoni Zorbas; Charlotte Engström; Jochen Gottschalk; Soraya Amar El Dusouqui; Sophie Waldvogel-Abramovski; Emmanuel Rigal; Jean-Daniel Tissot; Caroline Tinguely; Simon M Mauvais; Amira Sarraj; Daniel Bessero; Michele Stalder; Laura Infanti; Andreas Buser; Jörg Sigle; Tina Weingand; Damiano Castelli; Monica C Braisch; Jutta Thierbach; Sonja Heer; Thomas Schulzki; Michael Krawczak; Andre Franke; Beat M Frey Journal: Transfus Med Hemother Date: 2018-07-10 Impact factor: 3.747