Blood Group--lutheran Inhibitor; Inlu

Description

The Lutheran inhibitor blood group phenotype (In(Lu)) is characterized phenotypically by the apparent absence of the Lu antigen (BCAM ) 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.The Lu-null phenotype, or autosomal recessive true Lu(a-b-) (OMIM ), is caused by homozygous or compound heterozygous inactivating mutations in the BCAM gene.

Clinical Features

Phenotypes and symptoms related to Blood Group--lutheran Inhibitor; Inlu

  • 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

Blood Group--lutheran Inhibitor; Inlu Is also known as dominant 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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Blood Group--lutheran Inhibitor; Inlu Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SEC23B, LPIN2, CDAN1, C15orf41, ALAS2, GATA1, KLF1, KIF23
Specificity
13 %
Genes
100 %
KLF1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

KLF1
Specificity
100 %
Genes
100 %
KLF1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

KLF1
Specificity
100 %
Genes
100 %
Congenital Dyserythropoietic Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SEC23B, LPIN2, CDAN1, C15orf41, GATA1, KLF1, KIF23
Specificity
15 %
Genes
100 %
Hemolytic Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SEC23B, CDAN1, C15orf41, GATA1, KLF1
Specificity
20 %
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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