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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

Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia.
Rets A, Clayton AL, Christensen RD, Agarwal AM
Int J Lab Hematol 2019 May;41 Suppl 1:95-101. doi: 10.1111/ijlh.13014. PMID: 31069991
Clinical Applications of Hemolytic Markers in the Differential Diagnosis and Management of Hemolytic Anemia.
Barcellini W, Fattizzo B
Dis Markers 2015;2015:635670. Epub 2015 Dec 27 doi: 10.1155/2015/635670. PMID: 26819490Free PMC Article
ACG clinical guidelines: diagnosis and management of celiac disease.
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

Congenital Hemolytic Anemias: Is There a Role for the Immune System?
Zaninoni A, Fermo E, Vercellati C, Marcello AP, Barcellini W, Bianchi P
Front Immunol 2020;11:1309. Epub 2020 Jun 23 doi: 10.3389/fimmu.2020.01309. PMID: 32655575Free PMC Article
Clinical manifestations of chronic atrophic gastritis.
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
Multiple-micronutrient supplementation for women during pregnancy.
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2017 Apr 13;4(4):CD004905. doi: 10.1002/14651858.CD004905.pub5. PMID: 28407219Free PMC Article
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.
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
Hereditary spherocytosis.
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

Small and Large Intestine (I): Malabsorption of Nutrients.
Montoro-Huguet MA, Belloc B, Domínguez-Cajal M
Nutrients 2021 Apr 11;13(4) doi: 10.3390/nu13041254. PMID: 33920345Free PMC Article
Erythematous and Vascular Oral Mucosal Lesions: A Clinicopathologic Review of Red Entities.
McNamara KK, Kalmar JR
Head Neck Pathol 2019 Mar;13(1):4-15. Epub 2019 Jan 29 doi: 10.1007/s12105-019-01002-8. PMID: 30693460Free PMC Article
Clinical manifestations of chronic atrophic gastritis.
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
Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.
Da Costa L, Galimand J, Fenneteau O, Mohandas N
Blood Rev 2013 Jul;27(4):167-78. Epub 2013 May 9 doi: 10.1016/j.blre.2013.04.003. PMID: 23664421
ACG clinical guidelines: diagnosis and management of celiac disease.
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

FDA Approval Summary: Lutetium Lu 177 Vipivotide Tetraxetan for Patients with Metastatic Castration-Resistant Prostate Cancer.
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
Multiple-micronutrient supplementation for women during pregnancy.
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2017 Apr 13;4(4):CD004905. doi: 10.1002/14651858.CD004905.pub5. PMID: 28407219Free PMC Article
Atypical hemolytic uremic syndrome.
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
ACG clinical guidelines: diagnosis and management of celiac disease.
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
Anemia in children.
Irwin JJ, Kirchner JT
Am Fam Physician 2001 Oct 15;64(8):1379-86. PMID: 11681780

Prognosis

Clinical Applications of Hemolytic Markers in the Differential Diagnosis and Management of Hemolytic Anemia.
Barcellini W, Fattizzo B
Dis Markers 2015;2015:635670. Epub 2015 Dec 27 doi: 10.1155/2015/635670. PMID: 26819490Free PMC Article
Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.
Fremeaux-Bacchi V, Fakhouri F, Garnier A, Bienaimé F, Dragon-Durey MA, Ngo S, Moulin B, Servais A, Provot F, Rostaing L, Burtey S, Niaudet P, Deschênes G, Lebranchu Y, Zuber J, Loirat C
Clin J Am Soc Nephrol 2013 Apr;8(4):554-62. Epub 2013 Jan 10 doi: 10.2215/CJN.04760512. PMID: 23307876Free PMC Article
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.
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
Paracoccidioidomycosis.
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
The human ATP-binding cassette (ABC) transporter superfamily.
Dean M, Rzhetsky A, Allikmets R
Genome Res 2001 Jul;11(7):1156-66. doi: 10.1101/gr.184901. PMID: 11435397

Clinical prediction guides

Multiple-micronutrient supplementation for women during pregnancy.
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2017 Apr 13;4(4):CD004905. doi: 10.1002/14651858.CD004905.pub5. PMID: 28407219Free PMC Article
Clinical Applications of Hemolytic Markers in the Differential Diagnosis and Management of Hemolytic Anemia.
Barcellini W, Fattizzo B
Dis Markers 2015;2015:635670. Epub 2015 Dec 27 doi: 10.1155/2015/635670. PMID: 26819490Free PMC Article
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.
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
Paracoccidioidomycosis.
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
The human ATP-binding cassette (ABC) transporter superfamily.
Dean M, Rzhetsky A, Allikmets R
Genome Res 2001 Jul;11(7):1156-66. doi: 10.1101/gr.184901. PMID: 11435397

Recent systematic reviews

A Systematic review on diagnostic methods of red cell membrane disorders in Asia.
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
Multiple-micronutrient supplementation for women during pregnancy.
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2017 Apr 13;4(4):CD004905. doi: 10.1002/14651858.CD004905.pub5. PMID: 28407219Free PMC Article
Multiple-micronutrient supplementation for women during pregnancy.
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2015 Nov 1;2015(11):CD004905. doi: 10.1002/14651858.CD004905.pub4. PMID: 26522344Free PMC Article
Interventions with vitamins B6, B12 and C in pregnancy.
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
Multiple-micronutrient supplementation for women during pregnancy.
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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