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 ... 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.
Darnborough et al. (1963) reported an English woman with recessive Lu null. She was ascertained when transfused during pulmonary lobectomy for tuberculosis. An anti-Lu antibody was found in her serum.
Brown et al. (1974) reported a ... Darnborough et al. (1963) reported an English woman with recessive Lu null. She was ascertained when transfused during pulmonary lobectomy for tuberculosis. An anti-Lu antibody was found in her serum. Brown et al. (1974) reported a large consanguineous family in which 3 individuals were Lutheran null. There were no phenotypic or hematologic manifestations. Inheritance was autosomal recessive. Myhre et al. (1975) described a brother and sister who were Lu(a-b-) and had consanguineous parents of Japanese descent. The authors postulated that the defect involved the Lutheran locus on chromosome 19. Mallinson et al. (1997) identified a Japanese man with Lutheran null phenotype ascertained during blood donation. Karamatic Crew et al. (2004) reported a German Caucasian woman of Czech origin who was found to be Lutheran null during surgical work-up. Serologic studies identified an anti-Lu3 antibody.
In a Japanese man with the Lutheran null phenotype, Mallinson et al. (1997) identified a homozygous mutation in the BCAM gene (612773.0005).
Karamatic Crew et al. (2004) identified a homozygous mutation in the BCAM gene (612773.0006) ... In a Japanese man with the Lutheran null phenotype, Mallinson et al. (1997) identified a homozygous mutation in the BCAM gene (612773.0005). Karamatic Crew et al. (2004) identified a homozygous mutation in the BCAM gene (612773.0006) in a German Caucasian woman with the Lutheran null phenotype. In an individual with the Lutheran null blood group phenotype reported by Darnborough et al. (1963), Karamatic Crew et al. (2007) identified compound heterozygous mutations in the BCAM gene (612773.0003-612773.0004).