First report of a KELnull phenotype in Peru and a lesson of invisible genetic disparity. (August 2019)

• Record Type: Journal Article
• Authors: Pérez, Ina; Castilho, Lilian; Goytendia, Alfredo; Rojas, Erika; Bernal, Jesús; Alva, José; Coyotupac, Julio; Cortez, Christian; Munive, Carlos; Tirado-Hurtado, Indira; Pinto, Joseph A.
• Is Part Of: Transfusion and apheresis science. Volume 58:Number 4(2019)
• Page Start: 453
• Page End: 456
• Publication Date: 2019-08
• Subjects: Kell blood group system -- KELnull alleles -- KELnull phenotype -- Hemolytic transfusion reactions -- Cancer; Blood -- Transfusion -- Periodicals; Hemapheresis -- Periodicals; 615.39
• DOI: 10.1016/j.transci.2019.04.025
• Languages: English
• ISSNs: 1473-0502

Abstract

Abstract: Blood banks in developing countries have limited capability to typify common blood groups creating disparities in the access to blood units for patients with rare blood genotypes. We report the case of a Peruvian woman with metastatic breast cancer with KELnull phenotype (K0 ), a rare blood group characterized by the lack of expression of all Kell antigens on the red blood cells (RBCs). The molecular studies identified that the patient's RBCs were homozygous for the nonsense c.1546C > T mutation predicted to encode p.Arg516Ter ( KEL*02 N.17 allele), which confirmed the K0 phenotype. We conducted a local and international search of compatible blood units. Finally, the Japanese Red Cross donated the blood units for the patient. We present here the first report for a K0 phenotype in Peru and the challenging genetic disparities that many patients have to face to access to blood units in our country.