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Anemia due to erythrocyte enzyme disorder

MedGen UID:
1383362
•Concept ID:
C4329304
•
Disease or Syndrome
Synonyms: Anemia due to Erythrocyte Enzyme Disorder; anemia due to erythrocyte enzyme disorder
 
Monarch Initiative: MONDO:0020585

Definition

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

Professional guidelines

PubMed

Treatment strategies for glucose-6-phosphate dehydrogenase deficiency: past and future perspectives.
Garcia AA, Koperniku A, Ferreira JCB, Mochly-Rosen D
Trends Pharmacol Sci 2021 Oct;42(10):829-844. Epub 2021 Aug 10 doi: 10.1016/j.tips.2021.07.002. PMID: 34389161Free 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
Diagnosis and management of G6PD deficiency.
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

Recent clinical studies

Therapy

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
Circulating mitochondrial DNA is a proinflammatory DAMP in sickle cell disease.
Tumburu L, Ghosh-Choudhary S, Seifuddin FT, Barbu EA, Yang S, Ahmad MM, Wilkins LHW, Tunc I, Sivakumar I, Nichols JS, Dagur PK, Yang S, Almeida LEF, Quezado ZMN, Combs CA, Lindberg E, Bleck CKE, Zhu J, Shet AS, Chung JH, Pirooznia M, Thein SL
Blood 2021 Jun 3;137(22):3116-3126. doi: 10.1182/blood.2020009063. PMID: 33661274Free PMC Article
Diamond-Blackfan anemia.
Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755Free PMC Article
Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.
Fenaux P, Platzbecker U, Mufti GJ, Garcia-Manero G, Buckstein R, Santini V, Díez-Campelo M, Finelli C, Cazzola M, Ilhan O, Sekeres MA, Falantes JF, Arrizabalaga B, Salvi F, Giai V, Vyas P, Bowen D, Selleslag D, DeZern AE, Jurcic JG, Germing U, Götze KS, Quesnel B, Beyne-Rauzy O, Cluzeau T, Voso MT, Mazure D, Vellenga E, Greenberg PL, Hellström-Lindberg E, Zeidan AM, Adès L, Verma A, Savona MR, Laadem A, Benzohra A, Zhang J, Rampersad A, Dunshee DR, Linde PG, Sherman ML, Komrokji RS, List AF
N Engl J Med 2020 Jan 9;382(2):140-151. doi: 10.1056/NEJMoa1908892. PMID: 31914241
How we manage adults with myelodysplastic syndrome.
Fenaux P, Platzbecker U, Ades L
Br J Haematol 2020 Jun;189(6):1016-1027. Epub 2019 Sep 30 doi: 10.1111/bjh.16206. PMID: 31568568

Prognosis

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
Circulating mitochondrial DNA is a proinflammatory DAMP in sickle cell disease.
Tumburu L, Ghosh-Choudhary S, Seifuddin FT, Barbu EA, Yang S, Ahmad MM, Wilkins LHW, Tunc I, Sivakumar I, Nichols JS, Dagur PK, Yang S, Almeida LEF, Quezado ZMN, Combs CA, Lindberg E, Bleck CKE, Zhu J, Shet AS, Chung JH, Pirooznia M, Thein SL
Blood 2021 Jun 3;137(22):3116-3126. doi: 10.1182/blood.2020009063. PMID: 33661274Free PMC Article
Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.
Fenaux P, Platzbecker U, Mufti GJ, Garcia-Manero G, Buckstein R, Santini V, Díez-Campelo M, Finelli C, Cazzola M, Ilhan O, Sekeres MA, Falantes JF, Arrizabalaga B, Salvi F, Giai V, Vyas P, Bowen D, Selleslag D, DeZern AE, Jurcic JG, Germing U, Götze KS, Quesnel B, Beyne-Rauzy O, Cluzeau T, Voso MT, Mazure D, Vellenga E, Greenberg PL, Hellström-Lindberg E, Zeidan AM, Adès L, Verma A, Savona MR, Laadem A, Benzohra A, Zhang J, Rampersad A, Dunshee DR, Linde PG, Sherman ML, Komrokji RS, List AF
N Engl J Med 2020 Jan 9;382(2):140-151. doi: 10.1056/NEJMoa1908892. PMID: 31914241
How we manage adults with myelodysplastic syndrome.
Fenaux P, Platzbecker U, Ades L
Br J Haematol 2020 Jun;189(6):1016-1027. Epub 2019 Sep 30 doi: 10.1111/bjh.16206. PMID: 31568568
Drug-induced anaemias.
Girdwood RH
Drugs 1976;11(5):394-404. doi: 10.2165/00003495-197611050-00003. PMID: 782836

Clinical prediction guides

The Malaria-High Blood Pressure Hypothesis: Revisited.
Nwokocha CR, Bafor EE, Ajayi OI, Ebeigbe AB
Am J Hypertens 2020 Aug 4;33(8):695-702. doi: 10.1093/ajh/hpaa051. PMID: 32211753
Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.
Fenaux P, Platzbecker U, Mufti GJ, Garcia-Manero G, Buckstein R, Santini V, Díez-Campelo M, Finelli C, Cazzola M, Ilhan O, Sekeres MA, Falantes JF, Arrizabalaga B, Salvi F, Giai V, Vyas P, Bowen D, Selleslag D, DeZern AE, Jurcic JG, Germing U, Götze KS, Quesnel B, Beyne-Rauzy O, Cluzeau T, Voso MT, Mazure D, Vellenga E, Greenberg PL, Hellström-Lindberg E, Zeidan AM, Adès L, Verma A, Savona MR, Laadem A, Benzohra A, Zhang J, Rampersad A, Dunshee DR, Linde PG, Sherman ML, Komrokji RS, List AF
N Engl J Med 2020 Jan 9;382(2):140-151. doi: 10.1056/NEJMoa1908892. PMID: 31914241
How we manage adults with myelodysplastic syndrome.
Fenaux P, Platzbecker U, Ades L
Br J Haematol 2020 Jun;189(6):1016-1027. Epub 2019 Sep 30 doi: 10.1111/bjh.16206. PMID: 31568568
Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Late-stage tumors induce anemia and immunosuppressive extramedullary erythroid progenitor cells.
Zhao L, He R, Long H, Guo B, Jia Q, Qin D, Liu SQ, Wang Z, Xiang T, Zhang J, Tan Y, Huang J, Chen J, Wang F, Xiao M, Gao J, Yang X, Zeng H, Wang X, Hu C, Alexander PB, Symonds ALJ, Yu J, Wan Y, Li QJ, Ye L, Zhu B
Nat Med 2018 Oct;24(10):1536-1544. Epub 2018 Oct 8 doi: 10.1038/s41591-018-0205-5. PMID: 30297899Free PMC Article

Recent systematic reviews

Effects of iron supplements in individuals with erythropoietic protoporphyria.
Heerfordt IM, Lerche CM, Philipsen PA, Wulf HC
Photodiagnosis Photodyn Ther 2024 Jun;47:104211. Epub 2024 May 9 doi: 10.1016/j.pdpdt.2024.104211. PMID: 38734198
Angiotensin-converting enzyme (ACE) inhibitors for proteinuria and microalbuminuria in people with sickle cell disease.
Sasongko TH, Nagalla S
Cochrane Database Syst Rev 2021 Dec 21;12(12):CD009191. doi: 10.1002/14651858.CD009191.pub4. PMID: 34932828Free 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
Angiotensin-converting enzyme (ACE) inhibitors for proteinuria and microalbuminuria in people with sickle cell disease.
Sasongko TH, Nagalla S, Ballas SK
Cochrane Database Syst Rev 2015 Jun 4;2015(6):CD009191. doi: 10.1002/14651858.CD009191.pub3. PMID: 26041152Free PMC Article
Angiotensin-converting enzyme (ACE) inhibitors for proteinuria and microalbuminuria in people with sickle cell disease.
Sasongko TH, Nagalla S, Ballas SK
Cochrane Database Syst Rev 2013 Mar 28;(3):CD009191. doi: 10.1002/14651858.CD009191.pub2. PMID: 23543572

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