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Anemia due to enzyme disorder

MedGen UID:
105411
Concept ID:
C0494226
Disease or Syndrome
Synonyms: Anemia due to Enzyme Disorder; anemia due to enzyme disorder; Anemia due to enzymopathy
SNOMED CT: Anemia due to enzyme disorder (351181000119103); Anemia due to enzymopathy (351181000119103)
 
Monarch Initiative: MONDO:0020584

Definition

Any form of anemia that results from the absence of, or the defective action of, any enzyme. [from NCI]

Professional guidelines

PubMed

Shadman M
JAMA 2023 Mar 21;329(11):918-932. doi: 10.1001/jama.2023.1946. PMID: 36943212
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Chen TK, Knicely DH, Grams ME
JAMA 2019 Oct 1;322(13):1294-1304. doi: 10.1001/jama.2019.14745. PMID: 31573641Free PMC Article

Recent clinical studies

Etiology

Hanna RM, Streja E, Kalantar-Zadeh K
Adv Ther 2021 Jan;38(1):52-75. Epub 2020 Oct 29 doi: 10.1007/s12325-020-01524-6. PMID: 33123967Free PMC Article
Jamwal M, Sharma P, Das R
Indian J Pediatr 2020 Jan;87(1):66-74. Epub 2019 Dec 10 doi: 10.1007/s12098-019-03119-8. PMID: 31823208
Harcke SJ, Rizzolo D, Harcke HT
JAAPA 2019 Nov;32(11):21-26. doi: 10.1097/01.JAA.0000586304.65429.a7. PMID: 31609781
Neave L, Scully M
Transfus Med Rev 2018 Oct;32(4):230-236. Epub 2018 Aug 18 doi: 10.1016/j.tmrv.2018.08.002. PMID: 30177429
Kim J, Kim H, Roh H, Kwon Y
Arch Pharm Res 2018 Apr;41(4):372-383. Epub 2018 Mar 19 doi: 10.1007/s12272-018-1016-4. PMID: 29552692

Diagnosis

Ku E, Del Vecchio L, Eckardt KU, Haase VH, Johansen KL, Nangaku M, Tangri N, Waikar SS, Więcek A, Cheung M, Jadoul M, Winkelmayer WC, Wheeler DC; for Conference Participants
Kidney Int 2023 Oct;104(4):655-680. Epub 2023 May 24 doi: 10.1016/j.kint.2023.05.009. PMID: 37236424
Jamwal M, Sharma P, Das R
Indian J Pediatr 2020 Jan;87(1):66-74. Epub 2019 Dec 10 doi: 10.1007/s12098-019-03119-8. PMID: 31823208
Myint ZW, Oo TH, Thein KZ, Tun AM, Saeed H
Ann Hematol 2018 Sep;97(9):1527-1534. Epub 2018 Jun 29 doi: 10.1007/s00277-018-3407-5. PMID: 29959467
Luzzatto L, Nannelli C, Notaro R
Hematol Oncol Clin North Am 2016 Apr;30(2):373-93. doi: 10.1016/j.hoc.2015.11.006. PMID: 27040960
Dhaliwal G, Cornett PA, Tierney LM Jr
Am Fam Physician 2004 Jun 1;69(11):2599-606. PMID: 15202694

Therapy

Ku E, Del Vecchio L, Eckardt KU, Haase VH, Johansen KL, Nangaku M, Tangri N, Waikar SS, Więcek A, Cheung M, Jadoul M, Winkelmayer WC, Wheeler DC; for Conference Participants
Kidney Int 2023 Oct;104(4):655-680. Epub 2023 May 24 doi: 10.1016/j.kint.2023.05.009. PMID: 37236424
Dhillon S
Drugs 2022 Jul;82(11):1207-1212. doi: 10.1007/s40265-022-01744-w. PMID: 35834123Free PMC Article
Markham A
Drugs 2021 Jan;81(1):169-174. doi: 10.1007/s40265-020-01444-3. PMID: 33320297
Myint ZW, Oo TH, Thein KZ, Tun AM, Saeed H
Ann Hematol 2018 Sep;97(9):1527-1534. Epub 2018 Jun 29 doi: 10.1007/s00277-018-3407-5. PMID: 29959467
Piga A, Roggero S, Salussolia I, Massano D, Serra M, Longo F
Ann N Y Acad Sci 2010 Aug;1202:75-8. doi: 10.1111/j.1749-6632.2010.05586.x. PMID: 20712776

Prognosis

Au TY, Wiśniewski OW, Benjamin S, Kubicki T, Dytfeld D, Gil L
Ann Hematol 2023 Jul;102(7):1629-1636. Epub 2023 Mar 11 doi: 10.1007/s00277-023-05164-y. PMID: 36905446Free PMC Article
Germing U, Schroeder T, Kaivers J, Kündgen A, Kobbe G, Gattermann N
Expert Rev Hematol 2019 Oct;12(10):893-908. Epub 2019 Jul 31 doi: 10.1080/17474086.2019.1647778. PMID: 31353975
Robson ME, Tung N, Conte P, Im SA, Senkus E, Xu B, Masuda N, Delaloge S, Li W, Armstrong A, Wu W, Goessl C, Runswick S, Domchek SM
Ann Oncol 2019 Apr 1;30(4):558-566. doi: 10.1093/annonc/mdz012. PMID: 30689707Free PMC Article
Stankovic Stojanovic K, Lionnet F
Clin Chim Acta 2016 Jul 1;458:99-102. Epub 2016 Apr 29 doi: 10.1016/j.cca.2016.04.035. PMID: 27138446
Toh BH, Chan J, Kyaw T, Alderuccio F
Clin Rev Allergy Immunol 2012 Jun;42(3):269-78. doi: 10.1007/s12016-010-8218-y. PMID: 21174235

Clinical prediction guides

Montoro-Huguet MA, Santolaria-Piedrafita S, Cañamares-Orbis P, García-Erce JA
Nutrients 2021 Sep 28;13(10) doi: 10.3390/nu13103437. PMID: 34684433Free PMC Article
Hanna RM, Streja E, Kalantar-Zadeh K
Adv Ther 2021 Jan;38(1):52-75. Epub 2020 Oct 29 doi: 10.1007/s12325-020-01524-6. PMID: 33123967Free PMC Article
Manrique-Caballero CL, Peerapornratana S, Formeck C, Del Rio-Pertuz G, Gomez Danies H, Kellum JA
Crit Care Clin 2020 Apr;36(2):333-356. Epub 2020 Jan 31 doi: 10.1016/j.ccc.2019.11.004. PMID: 32172817
Germing U, Schroeder T, Kaivers J, Kündgen A, Kobbe G, Gattermann N
Expert Rev Hematol 2019 Oct;12(10):893-908. Epub 2019 Jul 31 doi: 10.1080/17474086.2019.1647778. PMID: 31353975
Vulliamy T, Dokal I
Semin Hematol 2006 Jul;43(3):157-66. doi: 10.1053/j.seminhematol.2006.04.001. PMID: 16822458

Recent systematic reviews

Dowling GP, Daly GR, Keelan S, Boland F, Toomey S, Hill ADK, Hennessy BT
Clin Breast Cancer 2023 Dec;23(8):847-855.e2. Epub 2023 Sep 11 doi: 10.1016/j.clbc.2023.09.005. PMID: 37775347
Luo Y, Zhang Z, Guo X, Tang X, Li S, Gong G, Gao S, Zhang Y, Lin S
Lung Cancer 2023 Oct;184:107319. Epub 2023 Aug 7 doi: 10.1016/j.lungcan.2023.107319. PMID: 37597303
Sahana U, Wehland M, Simonsen U, Schulz H, Grimm D
Int J Mol Sci 2023 Jul 23;24(14) doi: 10.3390/ijms241411826. PMID: 37511587Free PMC Article
Karakuş V, Kaya E, Görgülügil GZ, Dere Y, Kurtoğlu E
Transfus Apher Sci 2020 Apr;59(2):102694. Epub 2019 Dec 13 doi: 10.1016/j.transci.2019.102694. PMID: 31882363
Qi X, Wu F, He C, Fan D, Han G
Eur J Gastroenterol Hepatol 2015 Jan;27(1):77-83. doi: 10.1097/MEG.0000000000000221. PMID: 25426980

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