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Genetics Home Reference: your guide to understanding genetic conditions
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Blood group gene family

Reviewed May 2008

What are the blood group genes?

Blood is classified into different groups according to the presence or absence of molecules called antigens on the surface of every red blood cell in a person's body. Antigens determine blood type and can either be proteins or complexes of sugar molecules (polysaccharides). The genes in the blood group antigen family provide instructions for making antigen proteins. Blood group antigen proteins serve a variety of functions within the cell membrane of red blood cells. These protein functions include transporting other proteins and molecules into and out of the cell, maintaining cell structure, attaching to other cells and molecules, and participating in chemical reactions.

Blood group antigens play a role in recognizing foreign cells in the bloodstream. For example, if a person with blood type A receives a blood transfusion with blood type B, the recipient's immune system will recognize the type B cells as foreign and mount an immune response. Antibodies against type B blood cells (anti-B antibodies) are made, which attack and destroy the type B blood cells. This sort of blood type mismatch can lead to illness. Some blood types are associated with more severe immune reactions than others. The blood type of donated cells, or tissues in the case of organ donation, is checked before being given to a recipient in order to prevent this immune response.

There are 29 recognized blood groups, most involving only one gene. Variations (polymorphisms) within the genes that determine blood group give rise to the different antigens for a particular blood group protein. For example, changes in a few DNA building blocks (nucleotides) in the ABO gene give rise to the A, B, and O blood types of the ABO blood group. The changes that occur in the genes that determine blood group typically affect only blood type and are not associated with adverse health conditions, although exceptions do occur.

Which genes are included in the blood group gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the blood group family (http://www.genenames.org/genefamilies/blood-group).

Genetics Home Reference summarizes the normal function and health implications of these members of the blood group gene family: SLC4A1 and XK.

What conditions are related to genes in the blood group gene family?

Genetics Home Reference includes these conditions related to genes in the blood group gene family:

  • hereditary spherocytosis
  • McLeod neuroacanthocytosis syndrome
  • SLC4A1-associated distal renal tubular acidosis

Where can I find additional information about the blood group gene family?

You may find the following resources about the blood group gene family helpful.

  • Blood Groups and Red Cell Antigens (2005): Blood group antigens are surface markers on the red blood cell membrane (http://www.ncbi.nlm.nih.gov/books/NBK2264/) (U.S. National Library of Medicine)
  • Emory University: The Genetics of Blood Type (http://genetics.emory.edu/pdf/factsheet43.pdf)
  • Blood Group Antigen Gene Mutations Database (http://www.ncbi.nlm.nih.gov/gv/rbc/xslcgi.fcgi?cmd=bgmut/home) (National Center for Biotechnology Information)
  • National Heart, Lung, and Blood Institute (http://www.nhlbi.nih.gov/) (National Institutes of Health)

What glossary definitions help with understanding the blood group gene family?

anion ; antigens ; carrier ; cell ; cell membrane ; DNA ; gene ; immune response ; immune system ; polysaccharides ; protein ; red blood cell ; solute

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the blood group gene family.

  • Avent, Neil D (January 2006) Blood Groups: Molecular Genetics Basis. In: ENCYLOPEDIA OF LIFE SCIENCES. John Wiley & Sons, Ltd. (http://onlinelibrary.wiley.com/doi/10.1038/npg.els.0006034/abstract)
  • Daniels G. Functions of red cell surface proteins. Vox Sang. 2007 Nov;93(4):331-40. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18070278?dopt=Abstract)
  • Westhoff CM. The structure and function of the Rh antigen complex. Semin Hematol. 2007 Jan;44(1):42-50. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17198846?dopt=Abstract)
  • Quill E. Medicine. Blood-matching goes genetic. Science. 2008 Mar 14;319(5869):1478-9. doi: 10.1126/science.319.5869.1478. (http://www.ncbi.nlm.nih.gov/pubmed/18339916?dopt=Abstract)
  • Palacajornsuk P. Review: molecular basis of MNS blood group variants. Immunohematology. 2006;22(4):171-82. Review. Erratum in: Immunohematol. 2007;23(1):44. (http://www.ncbi.nlm.nih.gov/pubmed/17430076?dopt=Abstract)
  • Eyler CE, Telen MJ. The Lutheran glycoprotein: a multifunctional adhesion receptor. Transfusion. 2006 Apr;46(4):668-77. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16584446?dopt=Abstract)
  • Yamamoto F. Review: ABO blood group system--ABH oligosaccharide antigens, anti-A and anti-B, A and B glycosyltransferases, and ABO genes. Immunohematology. 2004;20(1):3-22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15373665?dopt=Abstract)
  • Byrne KM, Byrne PC. Review: other blood group systems--Diego,Yt, Xg, Scianna, Dombrock, Colton, Landsteiner-Wiener, and Indian. Immunohematology. 2004;20(1):50-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15373669?dopt=Abstract)
  • Westhoff CM, Reid ME. Review: the Kell, Duffy, and Kidd blood group systems. Immunohematology. 2004;20(1):37-49. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15373667?dopt=Abstract)
  • Daniels G. The molecular genetics of blood group polymorphism. Transpl Immunol. 2005 Aug;14(3-4):143-53. Epub 2005 Apr 26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15982556?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2008
Published: October 20, 2014