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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

Diagnosis and Treatment of Chronic Lymphocytic Leukemia: A Review.
Shadman M
JAMA 2023 Mar 21;329(11):918-932. doi: 10.1001/jama.2023.1946. PMID: 36943212
Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Chronic Kidney Disease Diagnosis and Management: A Review.
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

Future perspectives of anemia management in chronic kidney disease using hypoxia-inducible factor-prolyl hydroxylase inhibitors.
Sugahara M, Tanaka T, Nangaku M
Pharmacol Ther 2022 Nov;239:108272. Epub 2022 Aug 27 doi: 10.1016/j.pharmthera.2022.108272. PMID: 36031160
Burden of Anemia in Chronic Kidney Disease: Beyond Erythropoietin.
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
Laboratory Approach to Hemolytic Anemia.
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
G6PD deficiency: An update.
Harcke SJ, Rizzolo D, Harcke HT
JAAPA 2019 Nov;32(11):21-26. doi: 10.1097/01.JAA.0000586304.65429.a7. PMID: 31609781
Causes of hyperhomocysteinemia and its pathological significance.
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

Novel anemia therapies in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
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
Laboratory Approach to Hemolytic Anemia.
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
Copper deficiency anemia: review article.
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
Glucose-6-Phosphate Dehydrogenase Deficiency.
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
Hemolytic anemia.
Dhaliwal G, Cornett PA, Tierney LM Jr
Am Fam Physician 2004 Jun 1;69(11):2599-606. PMID: 15202694

Therapy

Novel anemia therapies in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
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
Anemia in myelofibrosis: Current and emerging treatment options.
Passamonti F, Harrison CN, Mesa RA, Kiladjian JJ, Vannucchi AM, Verstovsek S
Crit Rev Oncol Hematol 2022 Dec;180:103862. Epub 2022 Nov 1 doi: 10.1016/j.critrevonc.2022.103862. PMID: 36332787
Momelotinib for the treatment of myelofibrosis with anemia.
Tremblay D, Mesa R
Future Oncol 2022 Jun;18(20):2559-2571. Epub 2022 May 23 doi: 10.2217/fon-2022-0276. PMID: 35603634
Burden of Anemia in Chronic Kidney Disease: Beyond Erythropoietin.
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
Copper deficiency anemia: review article.
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

Prognosis

Iron Deficiency in Celiac Disease: Prevalence, Health Impact, and Clinical Management.
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
Efficacy and Cardiovascular Safety of Roxadustat for Treatment of Anemia in Patients with Non-Dialysis-Dependent CKD: Pooled Results of Three Randomized Clinical Trials.
Provenzano R, Szczech L, Leong R, Saikali KG, Zhong M, Lee TT, Little DJ, Houser MT, Frison L, Houghton J, Neff TB
Clin J Am Soc Nephrol 2021 Aug;16(8):1190-1200. doi: 10.2215/CJN.16191020. PMID: 34362786Free PMC Article
Typical and Atypical Hemolytic Uremic Syndrome in the Critically Ill.
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
OlympiAD final overall survival and tolerability results: Olaparib versus chemotherapy treatment of physician's choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer.
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
Pearson syndrome.
Farruggia P, Di Marco F, Dufour C
Expert Rev Hematol 2018 Mar;11(3):239-246. Epub 2018 Jan 23 doi: 10.1080/17474086.2018.1426454. PMID: 29337599

Clinical prediction guides

Iron Deficiency in Celiac Disease: Prevalence, Health Impact, and Clinical Management.
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
Sutimlimab in Cold Agglutinin Disease.
Röth A, Barcellini W, D'Sa S, Miyakawa Y, Broome CM, Michel M, Kuter DJ, Jilma B, Tvedt THA, Fruebis J, Jiang X, Lin S, Reuter C, Morales-Arias J, Hobbs W, Berentsen S
N Engl J Med 2021 Apr 8;384(14):1323-1334. doi: 10.1056/NEJMoa2027760. PMID: 33826820
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074
Burden of Anemia in Chronic Kidney Disease: Beyond Erythropoietin.
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
Typical and Atypical Hemolytic Uremic Syndrome in the Critically Ill.
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

Recent systematic reviews

Efficacy and Safety of Trastuzumab Deruxtecan in Breast Cancer: A Systematic Review and Meta-Analysis.
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
Comparative safety of anaplastic lymphoma kinase tyrosine kinase inhibitors in advanced anaplastic lymphoma kinase-mutated non-small cell lung cancer: Systematic review and network meta-analysis.
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
A Systematic Review of the Effect of Vericiguat on Patients with Heart Failure.
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
Effects of hypoxia-inducible factor-prolyl hydroxylase inhibitors vs. erythropoiesis-stimulating agents on iron metabolism in non-dialysis-dependent anemic patients with CKD: A network meta-analysis.
Yang J, Xing J, Zhu X, Xie X, Wang L, Zhang X
Front Endocrinol (Lausanne) 2023;14:1131516. Epub 2023 Mar 16 doi: 10.3389/fendo.2023.1131516. PMID: 37008953Free PMC Article
Clinical and laboratory characteristics, epidemiology, and outcomes of murine typhus: A systematic review.
Tsioutis C, Zafeiri M, Avramopoulos A, Prousali E, Miligkos M, Karageorgos SA
Acta Trop 2017 Feb;166:16-24. Epub 2016 Oct 29 doi: 10.1016/j.actatropica.2016.10.018. PMID: 27983969

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