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Abnormal erythrocyte physiology

MedGen UID:
1670968
•Concept ID:
C4732748
•
Finding
HPO: HP:0020054

Definition

Any functional abnormality of erythrocytes (red-blood cells). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal erythrocyte physiology

Professional guidelines

PubMed

Understanding Sickle cell disease: Causes, symptoms, and treatment options.
Elendu C, Amaechi DC, Alakwe-Ojimba CE, Elendu TC, Elendu RC, Ayabazu CP, Aina TO, Aborisade O, Adenikinju JS
Medicine (Baltimore) 2023 Sep 22;102(38):e35237. doi: 10.1097/MD.0000000000035237. PMID: 37746969Free PMC Article
Sickle cell disease: current treatment and emerging therapies.
Neumayr LD, Hoppe CC, Brown C
Am J Manag Care 2019 Nov;25(18 Suppl):S335-S343. PMID: 31809007
Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review.
Manciu S, Matei E, Trandafir B
Chirurgia (Bucur) 2017 Mar-Apr;112(2):110-116. doi: 10.21614/chirurgia.112.2.110. PMID: 28463670

Recent clinical studies

Etiology

Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review.
Manciu S, Matei E, Trandafir B
Chirurgia (Bucur) 2017 Mar-Apr;112(2):110-116. doi: 10.21614/chirurgia.112.2.110. PMID: 28463670
Erythrocyte and platelet proteomics in hematological disorders.
Chakrabarti A, Halder S, Karmakar S
Proteomics Clin Appl 2016 Apr;10(4):403-14. Epub 2016 Jan 28 doi: 10.1002/prca.201500080. PMID: 26611378
Neuroacanthocytosis.
Danek A, Walker RH
Curr Opin Neurol 2005 Aug;18(4):386-92. doi: 10.1097/01.wco.0000173464.01888.e9. PMID: 16003113
Malaria and anemia.
Ekvall H
Curr Opin Hematol 2003 Mar;10(2):108-14. doi: 10.1097/00062752-200303000-00002. PMID: 12579035
Drug-induced megaloblastic change.
Scott JM, Weir DG
Clin Haematol 1980 Oct;9(3):587-606. PMID: 6450011

Diagnosis

Red cell membrane disorders: structure meets function.
Risinger M, Kalfa TA
Blood 2020 Sep 10;136(11):1250-1261. doi: 10.1182/blood.2019000946. PMID: 32702754Free PMC Article
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J
Hum Mutat 2020 Jan;41(1):17-37. Epub 2019 Sep 15 doi: 10.1002/humu.23899. PMID: 31448844
Insight into the complex pathophysiology of sickle cell anaemia and possible treatment.
Piccin A, Murphy C, Eakins E, Rondinelli MB, Daves M, Vecchiato C, Wolf D, Mc Mahon C, Smith OP
Eur J Haematol 2019 Apr;102(4):319-330. Epub 2019 Feb 21 doi: 10.1111/ejh.13212. PMID: 30664257
Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review.
Manciu S, Matei E, Trandafir B
Chirurgia (Bucur) 2017 Mar-Apr;112(2):110-116. doi: 10.21614/chirurgia.112.2.110. PMID: 28463670
Neuroacanthocytosis.
Danek A, Walker RH
Curr Opin Neurol 2005 Aug;18(4):386-92. doi: 10.1097/01.wco.0000173464.01888.e9. PMID: 16003113

Therapy

Insight into the complex pathophysiology of sickle cell anaemia and possible treatment.
Piccin A, Murphy C, Eakins E, Rondinelli MB, Daves M, Vecchiato C, Wolf D, Mc Mahon C, Smith OP
Eur J Haematol 2019 Apr;102(4):319-330. Epub 2019 Feb 21 doi: 10.1111/ejh.13212. PMID: 30664257
Phytosterolemia.
Bain BJ, Chakravorty S
Am J Hematol 2016 Jun;91(6):643. Epub 2016 Apr 24 doi: 10.1002/ajh.24343. PMID: 26927922
Folate status assessment.
Bailey LB
J Nutr 1990 Nov;120 Suppl 11:1508-11. doi: 10.1093/jn/120.suppl_11.1508. PMID: 2243297
Drug-induced megaloblastic change.
Scott JM, Weir DG
Clin Haematol 1980 Oct;9(3):587-606. PMID: 6450011
Drug-induced haemolytic anemia.
Petz LD, Garratty G
Clin Haematol 1975 Feb;4(1):181-97. PMID: 126834

Prognosis

Spur-Cell Hemolytic Anemia.
Patel A, Tillman BF
N Engl J Med 2022 Jan 27;386(4):e6. doi: 10.1056/NEJMicm2101673. PMID: 35081282
A Review of Complement Activation in SLE.
Weinstein A, Alexander RV, Zack DJ
Curr Rheumatol Rep 2021 Feb 10;23(3):16. doi: 10.1007/s11926-021-00984-1. PMID: 33569681Free PMC Article
Spur-Cell Anemia.
Keyserling K, Koprowski S
N Engl J Med 2018 Aug 23;379(8):774. doi: 10.1056/NEJMicm1714572. PMID: 30134135
Myelodysplastic syndromes.
Lowenthal RM, Marsden KA
Int J Hematol 1997 Jun;65(4):319-38. doi: 10.1016/s0925-5710(96)00566-x. PMID: 9195773
Anemia in alcoholics.
Savage D, Lindenbaum J
Medicine (Baltimore) 1986 Sep;65(5):322-38. doi: 10.1097/00005792-198609000-00005. PMID: 3747828

Clinical prediction guides

Humoral and cellular immune response to Buerger's disease.
Ehteshamfar SM, Afshari JT, Modaghegh MS, Mahmoudi M, Kazemzadeh GH, Kermani FS
Vascular 2020 Aug;28(4):457-464. Epub 2020 Mar 25 doi: 10.1177/1708538120910055. PMID: 32212917
Not all red cells sickle the same: Contributions of the reticulocyte to disease pathology in sickle cell anemia.
Carden MA, Fasano RM, Meier ER
Blood Rev 2020 Mar;40:100637. Epub 2019 Nov 5 doi: 10.1016/j.blre.2019.100637. PMID: 31735458Free PMC Article
The proteomics and interactomics of human erythrocytes.
Goodman SR, Daescu O, Kakhniashvili DG, Zivanic M
Exp Biol Med (Maywood) 2013 May;238(5):509-18. doi: 10.1177/1535370213488474. PMID: 23856902
Congenital dyserythropoietic anemias.
Marks PW, Mitus AJ
Am J Hematol 1996 Jan;51(1):55-63. doi: 10.1002/(SICI)1096-8652(199601)51:1<55::AID-AJH9>3.0.CO;2-6. PMID: 8571938
Anemia in alcoholics.
Savage D, Lindenbaum J
Medicine (Baltimore) 1986 Sep;65(5):322-38. doi: 10.1097/00005792-198609000-00005. PMID: 3747828

Recent systematic reviews

Updated Worldwide Epidemiology of Inherited Erythrocyte Disorders.
Lippi G, Mattiuzzi C
Acta Haematol 2020;143(3):196-203. Epub 2019 Sep 24 doi: 10.1159/000502434. PMID: 31550707
Relationship between polyunsaturated fatty acid and eating disorders: Systematic review and meta-analysis.
Satogami K, Tseng PT, Su KP, Takahashi S, Ukai S, Li DJ, Chen TY, Lin PY, Chen YW, Matsuoka YJ
Prostaglandins Leukot Essent Fatty Acids 2019 Mar;142:11-19. Epub 2019 Jan 11 doi: 10.1016/j.plefa.2019.01.001. PMID: 30773209
Folate supplementation in people with sickle cell disease.
Dixit R, Nettem S, Madan SS, Soe HHK, Abas AB, Vance LD, Stover PJ
Cochrane Database Syst Rev 2018 Mar 16;3(3):CD011130. doi: 10.1002/14651858.CD011130.pub3. PMID: 29546732Free PMC Article
Drugs for preventing red blood cell dehydration in people with sickle cell disease.
Nagalla S, Ballas SK
Cochrane Database Syst Rev 2016 Mar 4;3:CD003426. doi: 10.1002/14651858.CD003426.pub5. PMID: 26942338
Computational microscopic imaging for malaria parasite detection: a systematic review.
Das DK, Mukherjee R, Chakraborty C
J Microsc 2015 Oct;260(1):1-19. Epub 2015 Jun 5 doi: 10.1111/jmi.12270. PMID: 26047029

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