Lutheran Null

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 (OMIM ) has been rarely reported.

Clinical Features

Phenotypes and symptoms related to Lutheran Null

  • Absence of Lutheran antigen on erythrocytes

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Lutheran Null Is also known as recessive lu (a-b-) phenotype.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Lutheran Null Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lutheran (Lua/Lub) Genotyping.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti (United States).

BCAM
Specificity
100 %
Genes
100 %
Red Cell Genotyping Panel.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti (United States).

RHCE, RHD, SLC14A1, ACKR1, GYPA, GYPB, KEL, BCAM, ART4
Specificity
12 %
Genes
100 %
BCAM.

By Fulgent Genetics Fulgent Genetics (United States).

BCAM
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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