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Blood group antigen abnormality

MedGen UID:
869198
•Concept ID:
C4023620
•
Anatomical Abnormality
HPO: HP:0010970

Definition

An abnormality of an erythrocyte cell surface molecule. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Blood group antigen abnormality

Professional guidelines

PubMed

Diagnostic criteria and classification of mastocytosis: a consensus proposal.
Valent P, Horny HP, Escribano L, Longley BJ, Li CY, Schwartz LB, Marone G, Nuñez R, Akin C, Sotlar K, Sperr WR, Wolff K, Brunning RD, Parwaresch RM, Austen KF, Lennert K, Metcalfe DD, Vardiman JW, Bennett JM
Leuk Res 2001 Jul;25(7):603-25. doi: 10.1016/s0145-2126(01)00038-8. PMID: 11377686
Prenatal diagnosis by analysis of fetal cells in maternal blood.
Bianchi DW
J Pediatr 1995 Dec;127(6):847-56. doi: 10.1016/s0022-3476(95)70018-8. PMID: 8523179
Prenatal diagnosis of genetic disorders: trials and tribulations.
Davidson RG, Rattazzi MC
Clin Chem 1972 Mar;18(3):179-87. PMID: 4259852

Recent clinical studies

Etiology

The Amish.
McKusick VA
Endeavour 1980;4(2):52-7. doi: 10.1016/0160-9327(80)90140-4. PMID: 6157517
Blood groups and anthropology.
Pollitzer WS
CRC Crit Rev Clin Lab Sci 1970 May;1(2):193-232. doi: 10.3109/10408367009021489. PMID: 5006215
MOSAICISM.
ENGEL E
N Engl J Med 1965 Jan 7;272:34-5. doi: 10.1056/NEJM196501072720108. PMID: 14219212
NEONATOLOGY.
MCKAY RJ Jr
N Engl J Med 1964 Jun 11;270:1292-9 CONCL. doi: 10.1056/NEJM196406112702406. PMID: 14133668
MEDICAL GENETICS 1962.
MCKUSICK VA
J Chronic Dis 1963 Jun;16:457-634. doi: 10.1016/0021-9681(63)90148-6. PMID: 14042963

Diagnosis

The Red Blood Cell-Inflammation Vicious Circle in Sickle Cell Disease.
Nader E, Romana M, Connes P
Front Immunol 2020;11:454. Epub 2020 Mar 13 doi: 10.3389/fimmu.2020.00454. PMID: 32231672Free PMC Article
First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.
Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z
Cochrane Database Syst Rev 2017 Mar 15;3(3):CD012600. doi: 10.1002/14651858.CD012600. PMID: 28295158Free PMC Article
Natural Antibodies Against Sialoglycans.
Shilova N, Huflejt ME, Vuskovic M, Obukhova P, Navakouski M, Khasbiullina N, Pazynina G, Galanina O, Bazhenov A, Bovin N
Top Curr Chem 2015;366:169-81. doi: 10.1007/128_2013_469. PMID: 24037491
Antibodies to neurofilaments.
Talja I, Reimand T, Uibo O, Reimand K, Aun S, Talvik T, Janmey PA, Uibo R
Ann N Y Acad Sci 2009 Sep;1173:130-6. doi: 10.1111/j.1749-6632.2009.04624.x. PMID: 19758141
NEONATOLOGY.
MCKAY RJ Jr
N Engl J Med 1964 Jun 11;270:1292-9 CONCL. doi: 10.1056/NEJM196406112702406. PMID: 14133668

Therapy

Association between plasma proteome and pulmonary heart disease: A two-stage Mendelian randomization analysis.
Li S, Ding H, Li Q, Zeng X, Zhang Y, Lai C, Xie X, Tang Y, Lan J
Clin Respir J 2024 Jun;18(6):e13775. doi: 10.1111/crj.13775. PMID: 38830831Free PMC Article
Prostate-Specific Antigen-Based Screening for Prostate Cancer: Evidence Report and Systematic Review for the US Preventive Services Task Force.
Fenton JJ, Weyrich MS, Durbin S, Liu Y, Bang H, Melnikow J
JAMA 2018 May 8;319(18):1914-1931. doi: 10.1001/jama.2018.3712. PMID: 29801018
Mechanisms of sickle cell alloimmunization.
Yazdanbakhsh K
Transfus Clin Biol 2015 Aug;22(3):178-81. Epub 2015 Jun 6 doi: 10.1016/j.tracli.2015.05.005. PMID: 26056038Free PMC Article
Chronic lymphocytic leukemia.
Keating MJ
Semin Oncol 1999 Oct;26(5 Suppl 14):107-14. PMID: 10561025
Auto-immune hemolytic anemia.
Issitt PD
Am J Med Technol 1974 Nov;40(11):479-95. PMID: 4215323

Prognosis

Single-cell atlas of the human brain vasculature across development, adulthood and disease.
Wälchli T, Ghobrial M, Schwab M, Takada S, Zhong H, Suntharalingham S, Vetiska S, Gonzalez DR, Wu R, Rehrauer H, Dinesh A, Yu K, Chen ELY, Bisschop J, Farnhammer F, Mansur A, Kalucka J, Tirosh I, Regli L, Schaller K, Frei K, Ketela T, Bernstein M, Kongkham P, Carmeliet P, Valiante T, Dirks PB, Suva ML, Zadeh G, Tabar V, Schlapbach R, Jackson HW, De Bock K, Fish JE, Monnier PP, Bader GD, Radovanovic I
Nature 2024 Aug;632(8025):603-613. Epub 2024 Jul 10 doi: 10.1038/s41586-024-07493-y. PMID: 38987604Free PMC Article
First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.
Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z
Cochrane Database Syst Rev 2017 Mar 15;3(3):CD012600. doi: 10.1002/14651858.CD012600. PMID: 28295158Free PMC Article
Neuroacanthocytosis syndromes.
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Antibodies to neurofilaments.
Talja I, Reimand T, Uibo O, Reimand K, Aun S, Talvik T, Janmey PA, Uibo R
Ann N Y Acad Sci 2009 Sep;1173:130-6. doi: 10.1111/j.1749-6632.2009.04624.x. PMID: 19758141
Chronic lymphocytic leukemia.
Keating MJ
Semin Oncol 1999 Oct;26(5 Suppl 14):107-14. PMID: 10561025

Clinical prediction guides

Association between plasma proteome and pulmonary heart disease: A two-stage Mendelian randomization analysis.
Li S, Ding H, Li Q, Zeng X, Zhang Y, Lai C, Xie X, Tang Y, Lan J
Clin Respir J 2024 Jun;18(6):e13775. doi: 10.1111/crj.13775. PMID: 38830831Free PMC Article
Susceptibility of ABO blood group to COVID-19 infections: clinico-hematological, radiological, and complications analysis.
Kabrah SM, Abuzerr SS, Baghdadi MA, Kabrah AM, Flemban AF, Bahwerth FS, Assaggaf HM, Alanazi EA, Alhifany AA, Al-Shareef SA, Alsabban WH, Khan AA, Alzhrani H, Jambi LK, Alsafi RT, Aslam A, Kabrah HM, Babalghith AO, Halawani AJ
Medicine (Baltimore) 2021 Dec 30;100(52):e28334. doi: 10.1097/MD.0000000000028334. PMID: 34967364Free PMC Article
First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.
Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z
Cochrane Database Syst Rev 2017 Mar 15;3(3):CD012600. doi: 10.1002/14651858.CD012600. PMID: 28295158Free PMC Article
Genetics of ankylosing spondylitis--insights into pathogenesis.
Brown MA, Kenna T, Wordsworth BP
Nat Rev Rheumatol 2016 Feb;12(2):81-91. Epub 2015 Oct 6 doi: 10.1038/nrrheum.2015.133. PMID: 26439405
Individual susceptibility to alcoholic pancreatitis.
Apte MV, Pirola RC, Wilson JS
J Gastroenterol Hepatol 2008 Mar;23 Suppl 1:S63-8. doi: 10.1111/j.1440-1746.2007.05287.x. PMID: 18336667

Recent systematic reviews

Serological and molecular analysis of the B(A) subtype in China-A systematic review.
Wang J, Wang Y, Tan J, Tan B
Transfus Clin Biol 2023 Nov;30(4):443-448. Epub 2023 Jul 4 doi: 10.1016/j.tracli.2023.07.001. PMID: 37414135
Prostate-Specific Antigen-Based Screening for Prostate Cancer: Evidence Report and Systematic Review for the US Preventive Services Task Force.
Fenton JJ, Weyrich MS, Durbin S, Liu Y, Bang H, Melnikow J
JAMA 2018 May 8;319(18):1914-1931. doi: 10.1001/jama.2018.3712. PMID: 29801018
First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.
Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z
Cochrane Database Syst Rev 2017 Mar 15;3(3):CD012600. doi: 10.1002/14651858.CD012600. PMID: 28295158Free PMC Article
The clinical effectiveness and cost-effectiveness of the PROGENSA® prostate cancer antigen 3 assay and the Prostate Health Index in the diagnosis of prostate cancer: a systematic review and economic evaluation.
Nicholson A, Mahon J, Boland A, Beale S, Dwan K, Fleeman N, Hockenhull J, Dundar Y
Health Technol Assess 2015 Oct;19(87):i-xxxi, 1-191. doi: 10.3310/hta19870. PMID: 26507078Free PMC Article
A systematic review of the diagnostic accuracy of prostate specific antigen.
Harvey P, Basuita A, Endersby D, Curtis B, Iacovidou A, Walker M
BMC Urol 2009 Sep 10;9:14. doi: 10.1186/1471-2490-9-14. PMID: 19744336Free PMC Article

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