Blood group--Lutheran inhibitor

Common Name(s)

Blood group--Lutheran inhibitor

The Lutheran inhibitor blood group phenotype (In(Lu)) is characterized phenotypically by the apparent absence of the Lu antigen (BCAM; {612773}) 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, {9:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. The Lu-null phenotype, or autosomal recessive true Lu(a-b-) ({247420}), is caused by homozygous or compound heterozygous inactivating mutations in the BCAM gene.
 

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Condition Specific Organizations

Following organizations serve the condition "Blood group--Lutheran inhibitor" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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