Bombay and Lewis phenotype testing in correlation with leukocyte adhesion deficiency type II: The blood bank's role in diagnosis

Abstract

Leukocyte adhesion deficiency type II (LAD II) is a rare hereditary disorder caused by the mutation in the guanosine diphosphate-fucose transporter gene (SLC35C1). LAD II is characterized by inexpression of ABO antigens (i.e., Bombay phenotype) and the lack of Lewis red blood cell (RBC) antigens. In addition to high neutrophil counts, patients also manifest recurrent infections with developmental delays and stunted growth. Blood bank laboratory tests such as blood grouping, RBC phenotyping, antibody screening and identification of the nature of the antibody were conducted in order to confirm the consequences associated with this gene anomaly in this case report. Type and screen results initially identified the patient as group “O” Rh positive with pan-reactive antibody screening cells and identification panel cells. The patient plasma showed significant incompatibility to all O-positive donors' RBCs. The patient's RBCs were tested against anti-H lectin and Lewis (Lea, Leb) typing antisera and showed no reaction, which meant that the patient does not express neither Lewis antigens nor H antigen on his red cell. The presence of anti-H (in a Bombay phenotype individual) explained the reactivity to reagent red cells and crossmatched incompatibility of Group O units as these cells naturally contained the H antigen.