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Anemia due to membrane defect

MedGen UID:
543748
Concept ID:
C0272031
Disease or Syndrome
Synonym: Hemolytic Anemia due to Membrane Defect
SNOMED CT: Anemia due to membrane defect (111575000)

Definition

A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. [from NCI]

Professional guidelines

PubMed

Schröder-Braunstein J, Kirschfink M
Mol Immunol 2019 Oct;114:299-311. Epub 2019 Aug 14 doi: 10.1016/j.molimm.2019.08.002. PMID: 31421540
Barcellini W, Fattizzo B
Dis Markers 2015;2015:635670. Epub 2015 Dec 27 doi: 10.1155/2015/635670. PMID: 26819490Free PMC Article
Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA; American College of Gastroenterology
Am J Gastroenterol 2013 May;108(5):656-76; quiz 677. Epub 2013 Apr 23 doi: 10.1038/ajg.2013.79. PMID: 23609613Free PMC Article

Recent clinical studies

Etiology

Rodriguez-Castro KI, Franceschi M, Noto A, Miraglia C, Nouvenne A, Leandro G, Meschi T, De' Angelis GL, Di Mario F
Acta Biomed 2018 Dec 17;89(8-S):88-92. doi: 10.23750/abm.v89i8-S.7921. PMID: 30561424Free PMC Article
Iolascon A, Andolfo I, Barcellini W, Corcione F, Garçon L, De Franceschi L, Pignata C, Graziadei G, Pospisilova D, Rees DC, de Montalembert M, Rivella S, Gambale A, Russo R, Ribeiro L, Vives-Corrons J, Martinez PA, Kattamis A, Gulbis B, Cappellini MD, Roberts I, Tamary H; Working Study Group on Red Cells and Iron of the EHA
Haematologica 2017 Aug;102(8):1304-1313. Epub 2017 May 26 doi: 10.3324/haematol.2016.161166. PMID: 28550188Free PMC Article
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2017 Apr 13;4(4):CD004905. doi: 10.1002/14651858.CD004905.pub5. PMID: 28407219Free PMC Article
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
Perrotta S, Gallagher PG, Mohandas N
Lancet 2008 Oct 18;372(9647):1411-26. doi: 10.1016/S0140-6736(08)61588-3. PMID: 18940465

Diagnosis

Montoro-Huguet MA, Belloc B, Domínguez-Cajal M
Nutrients 2021 Apr 11;13(4) doi: 10.3390/nu13041254. PMID: 33920345Free PMC Article
Rodriguez-Castro KI, Franceschi M, Noto A, Miraglia C, Nouvenne A, Leandro G, Meschi T, De' Angelis GL, Di Mario F
Acta Biomed 2018 Dec 17;89(8-S):88-92. doi: 10.23750/abm.v89i8-S.7921. PMID: 30561424Free PMC Article
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2017 Apr 13;4(4):CD004905. doi: 10.1002/14651858.CD004905.pub5. PMID: 28407219Free PMC Article
Barcellini W, Fattizzo B
Dis Markers 2015;2015:635670. Epub 2015 Dec 27 doi: 10.1155/2015/635670. PMID: 26819490Free PMC Article
Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA; American College of Gastroenterology
Am J Gastroenterol 2013 May;108(5):656-76; quiz 677. Epub 2013 Apr 23 doi: 10.1038/ajg.2013.79. PMID: 23609613Free PMC Article

Therapy

Fallah J, Agrawal S, Gittleman H, Fiero MH, Subramaniam S, John C, Chen W, Ricks TK, Niu G, Fotenos A, Wang M, Chiang K, Pierce WF, Suzman DL, Tang S, Pazdur R, Amiri-Kordestani L, Ibrahim A, Kluetz PG
Clin Cancer Res 2023 May 1;29(9):1651-1657. doi: 10.1158/1078-0432.CCR-22-2875. PMID: 36469000Free PMC Article
Iolascon A, Andolfo I, Barcellini W, Corcione F, Garçon L, De Franceschi L, Pignata C, Graziadei G, Pospisilova D, Rees DC, de Montalembert M, Rivella S, Gambale A, Russo R, Ribeiro L, Vives-Corrons J, Martinez PA, Kattamis A, Gulbis B, Cappellini MD, Roberts I, Tamary H; Working Study Group on Red Cells and Iron of the EHA
Haematologica 2017 Aug;102(8):1304-1313. Epub 2017 May 26 doi: 10.3324/haematol.2016.161166. PMID: 28550188Free PMC Article
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2017 Apr 13;4(4):CD004905. doi: 10.1002/14651858.CD004905.pub5. PMID: 28407219Free PMC Article
Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA; American College of Gastroenterology
Am J Gastroenterol 2013 May;108(5):656-76; quiz 677. Epub 2013 Apr 23 doi: 10.1038/ajg.2013.79. PMID: 23609613Free PMC Article
Irwin JJ, Kirchner JT
Am Fam Physician 2001 Oct 15;64(8):1379-86. PMID: 11681780

Prognosis

Barcellini W, Fattizzo B
Dis Markers 2015;2015:635670. Epub 2015 Dec 27 doi: 10.1155/2015/635670. PMID: 26819490Free PMC Article
Kavanagh D, Goodship TH, Richards A
Semin Nephrol 2013 Nov;33(6):508-30. doi: 10.1016/j.semnephrol.2013.08.003. PMID: 24161037Free PMC Article
Marks PW
Semin Hematol 2013 Jul;50(3):216-21. doi: 10.1053/j.seminhematol.2013.06.003. PMID: 23953338
Ferreira MS
Paediatr Respir Rev 2009 Dec;10(4):161-5. Epub 2009 Sep 25 doi: 10.1016/j.prrv.2009.08.001. PMID: 19879504
Dean M, Rzhetsky A, Allikmets R
Genome Res 2001 Jul;11(7):1156-66. doi: 10.1101/gr.184901. PMID: 11435397

Clinical prediction guides

Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2017 Apr 13;4(4):CD004905. doi: 10.1002/14651858.CD004905.pub5. PMID: 28407219Free PMC Article
Barcellini W, Fattizzo B
Dis Markers 2015;2015:635670. Epub 2015 Dec 27 doi: 10.1155/2015/635670. PMID: 26819490Free PMC Article
Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G
Clin J Am Soc Nephrol 2010 Oct;5(10):1844-59. Epub 2010 Jul 1 doi: 10.2215/CJN.02210310. PMID: 20595690Free PMC Article
Ferreira MS
Paediatr Respir Rev 2009 Dec;10(4):161-5. Epub 2009 Sep 25 doi: 10.1016/j.prrv.2009.08.001. PMID: 19879504
Dean M, Rzhetsky A, Allikmets R
Genome Res 2001 Jul;11(7):1156-66. doi: 10.1101/gr.184901. PMID: 11435397

Recent systematic reviews

Silva R, Amarasinghe D, Perera S, Premawardhena A
Int J Lab Hematol 2022 Apr;44(2):248-262. Epub 2022 Jan 23 doi: 10.1111/ijlh.13800. PMID: 35068068
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2017 Apr 13;4(4):CD004905. doi: 10.1002/14651858.CD004905.pub5. PMID: 28407219Free PMC Article
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2015 Nov 1;2015(11):CD004905. doi: 10.1002/14651858.CD004905.pub4. PMID: 26522344Free PMC Article
Dror DK, Allen LH
Paediatr Perinat Epidemiol 2012 Jul;26 Suppl 1:55-74. doi: 10.1111/j.1365-3016.2012.01277.x. PMID: 22742602
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2006 Oct 18;(4):CD004905. doi: 10.1002/14651858.CD004905.pub2. PMID: 17054223

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