Alternative titles and symbols : Recessive lu (a-b-) phenotype;
Description : Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely
rare, and has been reported in only 5 individuals. There is no obvious associated
clinical or hematologic pathology, and all patients have been identified through identification
of anti-Lu3 antibodies in their serum (Karamatic Crew et al., 2007). The Lutheran
inhibitor blood group phenotype (In(Lu); 111150) is characterized phenotypically by
the apparent absence of the Lu antigen on red blood cells during serologic tests,
i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially
postulated to result from an inhibitor of the Lu antigen. However, Singleton et al.
(2008) found that the phenotype results from a mutation in the transcription factor
KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence
on red blood cells can be differentiated both by the pedigree and by serologic studies.
An X-linked recessive form (309050) has been rarely reported.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the B-cell adhesion molecule gene (BCAM, 612773.0001);
Laboratory abnormalities : Presence of serum anti-Lu3 antibodies;
Currated CISMeF NLP mapping