Human blood group systems
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The term human blood group systems is defined by International Society of Blood Transfusion as systems in the human species where cell-surface antigens—in particular, those on blood cells—are "controlled at a single gene locus or by two or more very closely linked homologous genes with little or no observable recombination between them", and include the common ABO and Rh (Rhesus) antigen systems, as well as many others; thirty-five major human systems are identified as of November 2014.
In addition to the ABO and Rh systems, the antigens expressed on blood cell membrane surfaces include 346 red blood cell antigens and 33 platelet antigens, as defined serologically.[better source needed] The genetic basis for most of these antigens lie in 46 red blood cell and 6 platelet genes. An individual, for example, can be AB RhD positive, and at the same time M and N positive in the MNS system, K positive in the Kell system, and Lea or Leb positive in the Lewis system, where these and many of the systems are named for patients in whom the corresponding antibodies were first detected.
Blood grouping postulatesEdit
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Blood is composed of cells suspended in a liquid called plasma. Suspended in the plasma are three types of cells:
The most common type of grouping is the ABO blood group system. The varieties of glycoprotein and glycolipid coating on red blood cells divides blood into four groups:
- A (A oligosaccharide is present)
- B (B oligosaccharide is present)
- AB (A and B oligosaccharides are present)
- O (neither A nor B, only their precursor H oligosaccharide present)
Another antigen, the Rh factor, plays an important part in the grouping of blood. If this is present, the particular blood type is called Rh-positive. If it is absent, it is called Rh-negative.
Rare blood typesEdit
In addition to the ABO and Rh blood group systems, there are more than two hundred[contradictory] minor blood groups that can complicate blood transfusions. These are known as rare blood types. Whereas common blood types are expressed in a letter or two, which may be a plus or a minus, a smaller number of people express their blood type in an extensive series of letters in addition to their AB± type designation.
Blood group systemsEdit
|ISBT №||System name||System symbol||Epitope or carrier, notes||Chromosome|
|001||ABO||ABO||Carbohydrate (N-Acetylgalactosamine, galactose). A, B and H antigens mainly elicit IgM antibody reactions, although anti-H is very rare, see the Hh antigen system (Bombay phenotype, ISBT #18).||9q34.2|
|002||MNS||MNS||GPA / GPB (glycophorins A and B). Main antigens M, N, S, s.||4q31.21|
|003||P||P||Glycolipid. Three antigens: P1, P, and Pk||22q13.2|
|004||Rh||RH||Protein. C, c, D, E, e antigens (there is no "d" antigen; lowercase "d" indicates the absence of D).||1p36.11|
|005||Lutheran||LU||Protein (member of the immunoglobulin superfamily). Set of 21 antigens.||19q13.32|
|006||Kell||KEL||Glycoprotein. K1 can cause hemolytic disease of the newborn (anti-Kell), which can be severe.||7q34|
|007||Lewis||LE||Carbohydrate (fucose residue). Main antigens Lea and Leb — associated with tissue ABH antigen secretion.||19p13.3|
|008||Duffy||FY||Protein (chemokine receptor). Main antigens Fya and Fyb. Individuals lacking Duffy antigens altogether are immune to malaria caused by Plasmodium vivax and Plasmodium knowlesi.||1q23.2|
|009||Kidd||JK||Protein (urea transporter). Main antigens Jka and Jkb.||18q12.3|
|010||Diego||DI||Glycoprotein (band 3, AE 1, or anion exchange). Positive blood is found only among East Asians and Native Americans.||17q21.31|
|011||Yt||YT||Protein (AChE, acetylcholinesterase).||7q22.1|
|014||Dombrock||DO||Glycoprotein (fixed to cell membrane by GPI, or glycosyl-phosphatidyl-inositol).||12p12.3|
|015||Colton||CO||Aquaporin 1. Main antigens Co(a) and Co(b).||7p14.3|
|016||Landsteiner-Wiener||LW||Protein (member of the immunoglobulin superfamily).||19p13.2|
|017||Chido||CH||C4A C4B (complement fractions).||6p21.3|
|018||Hh||H||Carbohydrate (fucose residue).||19q13.33|
|020||Gerbich||GE||GPC / GPD (Glycophorins C and D).||2q14.3|
|021||Cromer||CROM||Glycoprotein (DAF or CD55, regulates complement fractions C3 and C5, attached to the membrane by GPI).||1q32.2|
|022||Knops||KN||Glycoprotein (CR1 or CD35, immune complex receptor).||1q32.2|
|023||Indian||IN||Glycoprotein (CD44 adhesion function?).||11p13|
|026||JMH||JMH||Protein (fixed to cell membrane by GPI). Also known as Semaphorin 7A or CD108.||15q24.1|
|027||Ii||I||Branched (I) / unbranched (i) polysaccharide.||6p24.2|
|028||Globoside||GLOB||Glycolipid. Antigen P.||3q26.1|
|029||GIL||GIL||Aquaporin 3.||9p13.3|
|030||Rh-associated glycoprotein||RHAg||Rh-associated glycoprotein.||6p21-qter|
|031||Forssman||FORS||Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1)||9q34.13|
|032||Langereis||LAN||ABCB6, human ATP-binding cassette (ABC) transporter, mitochondrial porphyrin transporter.||2q36|
|033||Junior||JR||ABCG2. Multi-drug transporter protein.||4q22|
|034||Vel||Vel||Human red cell antigens||1p36.32|
- ISBT (2016). "International Society for Blood Transfusion (ISBT) Committee on Terminology for Red Cell Surface Antigens, Terminology Home Page". Retrieved 20 February 2016.
- ISBT (2014). "Table of Blood Group Systems v4.0 (November)" (PDF). International Society of Blood Transfusion. Retrieved 19 February 2016.
- Lane, W.J.; Westhoff, C.M.; Uy, J.M.; Aguad, M.; Smeland-Wagman, R.; Kaufman, R.M.; Rehm, H.L.K.; Green, R.C.; Silberstein, L.E. (2015). "Comprehensive Red Blood Cell and Platelet Antigen Prediction from Whole Genome Sequencing: Proof of Principle". Transfusion. 56 (3): 743–54. doi:10.1111/trf.13416. PMID 26634332.[non-primary source needed][full citation needed]
- This blood phenotype was first discovered in Bombay, now known as Mumbai, in India, by Dr. Y. M. Bhende in 1952.
- Helias, V.; Saison, C.; Ballif, B.A.; Peyrard, T.; Takahashi, J.; Takahashi, H.; Tanaka, M.; Deybach, J.C.; Puy, H.; Le Gall, M.; Sureau, C.; Pham, B.N.; Le Pennec, P.Y.; Tani, Y.; Cartron, J.P. & Arnaud, L. (2012). "ABCB6 is Dispensable for Erythropoiesis and Specifies the New Blood Group System Langereis" (PDF). Nature Genetics. 44 (2, January 15): 170–173. doi:10.1038/ng.1069. PMC 3664204. PMID 22246506.
[Quoting Abstract: The human ATP-binding cassette (ABC) transporter ABCB6 has been described as a mitochondrial porphyrin transporter essential for heme biosynthesis, but it is also suspected to contribute to anticancer drug resistance, as do other ABC transporters located at the plasma membrane. We identified ABCB6 as the genetic basis of the Lan blood group antigen expressed on red blood cells but also at the plasma membrane of hepatocellular carcinoma (HCC) cells, and we established that ABCB6 encodes a new blood group system (Langereis, Lan). Targeted sequencing of ABCB6 in 12 unrelated individuals of the Lan(-) blood type identified 10 different ABCB6 null mutations. This is the first report of deficient alleles of this human ABC transporter gene. Of note, Lan(-) (ABCB6(-/-)) individuals do not suffer any clinical consequences, although their deficiency in ABCB6 may place them at risk when determining drug dosage.]CS1 maint: Uses authors parameter (link)
- Daniels, G.; Ballif, B. A.; Helias, V.; Saison, C.; Grimsley, S.; Mannessier, L.; Hustinx, H.; Lee, E.; et al. (20 April 2015). "Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type and ectopic mineralization". Blood. 125 (23): 3651–3654. doi:10.1182/blood-2015-03-631598. PMC 4458803. PMID 25896650.
- Dean, Laura (2005). Blood Groups and Red Cell Antigens. Bethesda, MD, USA: National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health. Retrieved 19 February 2016.
- SIB-EBI-PIR (2016). "Blood group Antigen Proteins: List of Entries, 17 February version". Swiss-Prot Protein Knowledgebase. Geneva, CHE: Swiss Institute of Bioinformatic (SIB), in cooperation with the European Bioinformatics Institute (EBI, Hinxton, ENG), and the Protein Information Resource (PIR, Washington DC, USA). Retrieved 19 February 2016.
- ISBT Table of blood group antigens within systems, updated August 2008.
- BGMUT Blood Group Antigen Gene Mutation Database at NCBI, NIH.