ABO gene related symptoms and diseases

All the information presented here about the ABO gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Rare diseases associated to ABO gene

Here you will find a list of rare diseases related to the ABO. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BLOOD GROUP, ABO SYSTEM

Alternate names

BLOOD GROUP, ABO SYSTEM Is also known as abo blood group system

Description

The ABO system, discovered in 1900 by Landsteiner (1900), is one of the most important blood group systems in transfusion medicine. The ABO system consists of A and B antigens and antibodies against these antigens. There are 4 major groups in the ABO system (A, B, AB, and O) that result from 3 major alleles (A, B, and O) of the ABO gene (OMIM ). Additional ABO subgroups are produced by dozens of ABO subgroup alleles. The A and B antigens are carbohydrate rather than protein antigens and are synthesized by a series of reactions catalyzed by glycosyltransferases. The final step in their biosynthesis is catalyzed by the A and B glycosyltransferases, which are encoded by the A and B alleles of the ABO gene, respectively. Individuals with blood group O do not produce functional A or B glycosyltransferases and therefore lack A and B antigens. Unlike many other blood group systems, the presence of naturally occurring antibodies against A and B antigens in individuals who do not express those antigens causes an adverse and potentially fatal outcome at the first mismatched transfusion. Because the A and B antigens exist in cells other than red blood cells, ABO matching is also important in cell, tissue, and organ transplantation, and ABO blood groups are important in forensic science (review by Yamamoto, 2004).


More info about BLOOD GROUP, ABO SYSTEM

SOURCES: OMIM


Potential gene panels for ABO gene

ABO. Genotyping alleles ABO by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABO gene.

More info about this panel
Spain.

ABO blood group genotyping (sequence analysis of exons 6 and 7 of ABO gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABO gene.

More info about this panel
Portugal.

ABO subgroup, ABO sequencing (exon 6,7) Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the ABO gene.

More info about this panel
United States.

Blood group genotyping AB0 Panel

Spain.

By Bioarray

This panel specifically test the ABO gene.

More info about this panel
Spain.

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