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Congenital Abnormalities of Erythrocyte Differentiation or Function

MedGen UID:
363229
Concept ID:
C1880167
Disease or Syndrome
Synonym: Inherited Abnormalities of Erythrocyte Differentiation or Function

Definition

Inherited disorders involving abnormalities of red blood cell function, structure, or production. Some diseases in this group may be associated with bone marrow failure, neutropenia, and/or thrombocytopenia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Abnormalities of Erythrocyte Differentiation or Function

Professional guidelines

PubMed

Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Donini LM, Busetto L, Bischoff SC, Cederholm T, Ballesteros-Pomar MD, Batsis JA, Bauer JM, Boirie Y, Cruz-Jentoft AJ, Dicker D, Frara S, Frühbeck G, Genton L, Gepner Y, Giustina A, Gonzalez MC, Han HS, Heymsfield SB, Higashiguchi T, Laviano A, Lenzi A, Nyulasi I, Parrinello E, Poggiogalle E, Prado CM, Salvador J, Rolland Y, Santini F, Serlie MJ, Shi H, Sieber CC, Siervo M, Vettor R, Villareal DT, Volkert D, Yu J, Zamboni M, Barazzoni R
Obes Facts 2022;15(3):321-335. Epub 2022 Feb 23 doi: 10.1159/000521241. PMID: 35196654Free PMC Article
Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, Yanovski JA
J Clin Endocrinol Metab 2017 Mar 1;102(3):709-757. doi: 10.1210/jc.2016-2573. PMID: 28359099Free PMC Article

Recent clinical studies

Etiology

Rayamajhi S, Aryal S
J Mater Chem B 2020 Jun 7;8(21):4552-4569. Epub 2020 May 7 doi: 10.1039/d0tb00744g. PMID: 32377649
Wutich A, Rosinger AY, Stoler J, Jepson W, Brewis A
Am J Hum Biol 2020 Jan;32(1):e23350. Epub 2019 Nov 8 doi: 10.1002/ajhb.23350. PMID: 31702101Free PMC Article
Fioranelli M, Bottaccioli AG, Bottaccioli F, Bianchi M, Rovesti M, Roccia MG
Front Immunol 2018;9:2031. Epub 2018 Sep 6 doi: 10.3389/fimmu.2018.02031. PMID: 30237802Free PMC Article
Robinson PG, Newman D, Reitz CL, Vaynberg LZ, Bahga DK, Levitt MH
Adv Physiol Educ 2018 Jun 1;42(2):192-199. doi: 10.1152/advan.00022.2017. PMID: 29616568
Cooper EL
Curr Pharm Des 2003;9(2):119-31. doi: 10.2174/1381612033392297. PMID: 12570663

Diagnosis

Forcieri S, Beretta EP, Riva MA
Adv Physiol Educ 2022 Dec 1;46(4):593-597. Epub 2022 Aug 25 doi: 10.1152/advan.00126.2022. PMID: 36007939
Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755Free PMC Article
Boyle PM, Karathanos TV, Trayanova NA
JACC Clin Electrophysiol 2018 Feb;4(2):155-167. Epub 2018 Feb 1 doi: 10.1016/j.jacep.2017.12.006. PMID: 29749932Free PMC Article
Fein D, Helt M
J Int Neuropsychol Soc 2017 Oct;23(9-10):903-915. doi: 10.1017/S1355617717001096. PMID: 29198284
Legatt AD
Handb Clin Neurol 2015;129:289-311. doi: 10.1016/B978-0-444-62630-1.00017-2. PMID: 25726276

Therapy

Atkinson G, Williamson P, Batterham AM
Exp Physiol 2019 Aug;104(8):1215-1225. Epub 2019 Jun 9 doi: 10.1113/EP087712. PMID: 31116468
de Morton NA
Aust J Physiother 2009;55(2):129-33. doi: 10.1016/s0004-9514(09)70043-1. PMID: 19463084
Dollery CT
Clin Pharmacol Ther 2007 Oct;82(4):366-70. doi: 10.1038/sj.clpt.6100363. PMID: 17851575
Giacinti L, Lopez M, Giordano A
Front Biosci 2006 Sep 1;11:2918-23. doi: 10.2741/2020. PMID: 16720363
Ann Intern Med 1980 Sep;93(3):391-8. doi: 10.7326/0003-4819-93-3-391. PMID: 6776858

Prognosis

Verdecchia P, Angeli F, Cavallini C, Aita A, Turturiello D, De Fano M, Reboldi G
Hypertension 2019 May;73(5):1071-1078. doi: 10.1161/HYPERTENSIONAHA.119.12684. PMID: 30827144
Chioncel O, Lainscak M, Seferovic PM, Anker SD, Crespo-Leiro MG, Harjola VP, Parissis J, Laroche C, Piepoli MF, Fonseca C, Mebazaa A, Lund L, Ambrosio GA, Coats AJ, Ferrari R, Ruschitzka F, Maggioni AP, Filippatos G
Eur J Heart Fail 2017 Dec;19(12):1574-1585. Epub 2017 Apr 6 doi: 10.1002/ejhf.813. PMID: 28386917
Hanly JG, O'Keeffe AG, Su L, Urowitz MB, Romero-Diaz J, Gordon C, Bae SC, Bernatsky S, Clarke AE, Wallace DJ, Merrill JT, Isenberg DA, Rahman A, Ginzler EM, Fortin P, Gladman DD, Sanchez-Guerrero J, Petri M, Bruce IN, Dooley MA, Ramsey-Goldman R, Aranow C, Alarcón GS, Fessler BJ, Steinsson K, Nived O, Sturfelt GK, Manzi S, Khamashta MA, van Vollenhoven RF, Zoma AA, Ramos-Casals M, Ruiz-Irastorza G, Lim SS, Stoll T, Inanc M, Kalunian KC, Kamen DL, Maddison P, Peschken CA, Jacobsen S, Askanase A, Theriault C, Thompson K, Farewell V
Rheumatology (Oxford) 2016 Feb;55(2):252-62. Epub 2015 Sep 5 doi: 10.1093/rheumatology/kev311. PMID: 26342222Free PMC Article
Iolascon A, Russo R, Delaunay J
Curr Opin Hematol 2011 May;18(3):146-51. doi: 10.1097/MOH.0b013e32834521b0. PMID: 21378561
Kirkwood TB
Bioessays 1996 Dec;18(12):1009-16. doi: 10.1002/bies.950181211. PMID: 8976158

Clinical prediction guides

Atwan Y, Schemitsch EH
Injury 2020 May;51 Suppl 2:S18-S22. Epub 2020 Jan 11 doi: 10.1016/j.injury.2019.12.028. PMID: 31983424
Spencer KT, Flachskampf FA
JACC Cardiovasc Imaging 2019 Jul;12(7 Pt 1):1243-1253. doi: 10.1016/j.jcmg.2018.12.036. PMID: 31272607
Scott IC, Scott DL
Clin Exp Rheumatol 2014 Sep-Oct;32(5 Suppl 85):S-7-12. Epub 2014 Oct 30 PMID: 25365082
Gailey RS, Roach KE, Applegate EB, Cho B, Cunniffe B, Licht S, Maguire M, Nash MS
Arch Phys Med Rehabil 2002 May;83(5):613-27. doi: 10.1053/apmr.2002.32309. PMID: 11994800
Banting DW
Adv Dent Res 1993 Aug;7(2):80-6. doi: 10.1177/08959374930070021901. PMID: 8260015

Recent systematic reviews

Bidzan-Bluma I, Lipowska M
Int J Environ Res Public Health 2018 Apr 19;15(4) doi: 10.3390/ijerph15040800. PMID: 29671803Free PMC Article
Domínguez-Navarro F, Igual-Camacho C, Silvestre-Muñoz A, Roig-Casasús S, Blasco JM
Gait Posture 2018 May;62:68-74. Epub 2018 Mar 5 doi: 10.1016/j.gaitpost.2018.03.003. PMID: 29525292
Barton C, Bickell M, Fucile S
Phys Occup Ther Pediatr 2018 May;38(2):190-209. Epub 2017 Apr 21 doi: 10.1080/01942638.2017.1290734. PMID: 28430014
Mancini E, Beglinger C, Drewe J, Zanchi D, Lang UE, Borgwardt S
Phytomedicine 2017 Oct 15;34:26-37. Epub 2017 Jul 27 doi: 10.1016/j.phymed.2017.07.008. PMID: 28899506
Sheffield JM, Barch DM
Neurosci Biobehav Rev 2016 Feb;61:108-20. Epub 2015 Dec 14 doi: 10.1016/j.neubiorev.2015.12.007. PMID: 26698018Free PMC Article

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