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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

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
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
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

Recent clinical studies

Etiology

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
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
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
Harcke SJ, Rizzolo D, Harcke HT
JAAPA 2019 Nov;32(11):21-26. doi: 10.1097/01.JAA.0000586304.65429.a7. PMID: 31609781
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

Diagnosis

Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755Free 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
Torres RJ, Puig JG
Orphanet J Rare Dis 2007 Dec 8;2:48. doi: 10.1186/1750-1172-2-48. PMID: 18067674Free PMC Article
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031
Dhaliwal G, Cornett PA, Tierney LM Jr
Am Fam Physician 2004 Jun 1;69(11):2599-606. PMID: 15202694

Therapy

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
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
Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755Free PMC Article
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
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

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
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
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
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
Girdwood RH
Drugs 1976;11(5):394-404. doi: 10.2165/00003495-197611050-00003. PMID: 782836

Clinical prediction guides

Packer M
Eur Heart J 2023 Dec 21;44(48):5027-5035. doi: 10.1093/eurheartj/ehad235. PMID: 37086098Free PMC Article
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
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
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
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

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
Sasongko TH, Nagalla S
Cochrane Database Syst Rev 2021 Dec 21;12(12):CD009191. doi: 10.1002/14651858.CD009191.pub4. PMID: 34932828Free PMC Article
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
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
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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