[MIM 247 420]

Very rare. Autosomal recessive transmission of mutations that prevent the expression of the BCAM gene (19q13.32) . The red blood cells Lutheran phenotype is due to the expression of the Lu antigen that includes the membrane protein Lu (CD239) and a glycoprotein B-CAM. The lack of expression of the  Lu antigen translates into the presence of anti-Lu3 antibodies. The presence of those antibodies does not provoke  any hemolytic reaction during transfusion (the lifespan of transfused red cells is only slightly reduced) nor any hemolytic disease of the newborn.

Updated: February 2017