First report of a KELnull phenotype in Peru and a lesson of invisible genetic disparity.

Affiliation

Servicio de Banco de Sangre y Medicina Transfusional, Clínica Delgado - AUNA, Avenida Angamos Oeste, cuadra 4, esquina con Calle General Borgoño, Miraflores, Lima 18, Peru. Electronic address: [Email]

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.

Keywords

Cancer,Hemolytic transfusion reactions,KELnull alleles,KELnull phenotype,Kell blood group system,

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