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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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAnemia due to enzyme disorder

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormal erythrocyte morphology
    - Anemia
      - Anemia due to enzyme disorder
        Anemia due to erythrocyte enzyme disorder
        Deficiency of bisphosphoglycerate mutase
        Deficiency of enolase
        Deficiency of hexokinase
        Erythrocyte Adenylate Kinase Deficiency
        Glucose phosphate isomerase deficiency
        Glycogen storage disease type X
        Triosephosphate isomerase deficiency
        Uridine monophosphate hydrolase deficiency

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: 31573641 Free PMC Article

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Recent clinical studies

Etiology

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: 33123967 Free 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

Medications and glucose-6-phosphate dehydrogenase deficiency: an evidence-based review.

Youngster I, Arcavi L, Schechmaster R, Akayzen Y, Popliski H, Shimonov J, Beig S, Berkovitch M
Drug Saf 2010 Sep 1;33(9):713-26. doi: 10.2165/11536520-000000000-00000. PMID: 20701405

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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

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Therapy

Novel anemia therapies in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

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: 33123967 Free 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

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Prognosis

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: 30689707 Free 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

Pharmacologic management of myelofibrosis.

Leung M, Highsmith K, Rexwinkle A
J Oncol Pharm Pract 2017 Dec;23(8):591-601. Epub 2016 Sep 26 doi: 10.1177/1078155216670229. PMID: 27672139

Aluminum-induced anemia.

Kaiser L, Schwartz KA
Am J Kidney Dis 1985 Nov;6(5):348-52. doi: 10.1016/s0272-6386(85)80092-5. PMID: 3904427

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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: 34684433 Free 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: 33123967 Free 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

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Recent systematic reviews

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Anemia due to enzyme disorder

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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