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Anemia due to disorders of nucleotide metabolism

MedGen UID:
141648
•Concept ID:
C0475533
•
Disease or Syndrome
Synonym: Anemia due to Disorder of Nucleotide Metabolism
SNOMED CT: Anemia due to disorders of nucleotide metabolism (191180008)

Definition

A group of hemolytic anemias that result from either the deficiency or overproduction of several enzymes involved in metabolizing nucleotides. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnemia due to disorders of nucleotide metabolism

Professional guidelines

PubMed

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Etavopivat, a Pyruvate Kinase Activator in Red Blood Cells, for the Treatment of Sickle Cell Disease.
Schroeder P, Fulzele K, Forsyth S, Ribadeneira MD, Guichard S, Wilker E, Marshall CG, Drake A, Fessler R, Konstantinidis DG, Seu KG, Kalfa TA
J Pharmacol Exp Ther 2022 Mar;380(3):210-219. Epub 2022 Jan 14 doi: 10.1124/jpet.121.000743. PMID: 35031585
Management of non-transfusion-dependent β-thalassemia (NTDT): The next 5 years.
Musallam KM, Rivella S, Taher AT
Am J Hematol 2021 Mar 1;96(3):E57-E59. Epub 2020 Dec 9 doi: 10.1002/ajh.26055. PMID: 33219704

Recent clinical studies

Etiology

Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
Ziltivekimab for Treatment of Anemia of Inflammation in Patients on Hemodialysis: Results from a Phase 1/2 Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial.
Pergola PE, Devalaraja M, Fishbane S, Chonchol M, Mathur VS, Smith MT, Lo L, Herzog K, Kakkar R, Davidson MH
J Am Soc Nephrol 2021 Jan;32(1):211-222. Epub 2020 Dec 3 doi: 10.1681/ASN.2020050595. PMID: 33272965Free PMC Article
Congenital dyserythropoietic anemias.
Iolascon A, Andolfo I, Russo R
Blood 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948. PMID: 32702750
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
Beta-thalassemia.
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328

Diagnosis

Adenomyosis pathogenesis: insights from next-generation sequencing.
Bulun SE, Yildiz S, Adli M, Wei JJ
Hum Reprod Update 2021 Oct 18;27(6):1086-1097. doi: 10.1093/humupd/dmab017. PMID: 34131719Free PMC Article
MicroRNAs in β-thalassemia.
Wang F, Ling L, Yu D
Am J Med Sci 2021 Jul;362(1):5-12. Epub 2021 Feb 16 doi: 10.1016/j.amjms.2021.02.011. PMID: 33600783
Congenital dyserythropoietic anemias.
Iolascon A, Andolfo I, Russo R
Blood 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948. PMID: 32702750
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
Beta-thalassemia.
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328

Therapy

Etavopivat, a Pyruvate Kinase Activator in Red Blood Cells, for the Treatment of Sickle Cell Disease.
Schroeder P, Fulzele K, Forsyth S, Ribadeneira MD, Guichard S, Wilker E, Marshall CG, Drake A, Fessler R, Konstantinidis DG, Seu KG, Kalfa TA
J Pharmacol Exp Ther 2022 Mar;380(3):210-219. Epub 2022 Jan 14 doi: 10.1124/jpet.121.000743. PMID: 35031585
Ziltivekimab for Treatment of Anemia of Inflammation in Patients on Hemodialysis: Results from a Phase 1/2 Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial.
Pergola PE, Devalaraja M, Fishbane S, Chonchol M, Mathur VS, Smith MT, Lo L, Herzog K, Kakkar R, Davidson MH
J Am Soc Nephrol 2021 Jan;32(1):211-222. Epub 2020 Dec 3 doi: 10.1681/ASN.2020050595. PMID: 33272965Free PMC Article
Fetal hemoglobin in sickle cell anemia.
Steinberg MH
Blood 2020 Nov 19;136(21):2392-2400. doi: 10.1182/blood.2020007645. PMID: 32808012Free PMC Article
Sickle cell disease severity: an introduction.
Pace BS, Goodman SR
Exp Biol Med (Maywood) 2016 Apr;241(7):677-8. doi: 10.1177/1535370216641880. PMID: 27190296Free PMC Article
Platelet disorders: a review of disturbances in adhesion, aggregation, and release reaction.
Sahud MA
Calif Med 1972 Jan;116(1):21-31. PMID: 4257630Free PMC Article

Prognosis

Iron deficiency in myocardial ischaemia: molecular mechanisms and therapeutic perspectives.
Corradi F, Masini G, Bucciarelli T, De Caterina R
Cardiovasc Res 2023 Nov 15;119(14):2405-2420. doi: 10.1093/cvr/cvad146. PMID: 37722377
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
MicroRNAs in β-thalassemia.
Wang F, Ling L, Yu D
Am J Med Sci 2021 Jul;362(1):5-12. Epub 2021 Feb 16 doi: 10.1016/j.amjms.2021.02.011. PMID: 33600783
Fetal hemoglobin in sickle cell anemia.
Steinberg MH
Blood 2020 Nov 19;136(21):2392-2400. doi: 10.1182/blood.2020007645. PMID: 32808012Free PMC Article
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus.
Lo YM, Chan KC, Sun H, Chen EZ, Jiang P, Lun FM, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RW
Sci Transl Med 2010 Dec 8;2(61):61ra91. doi: 10.1126/scitranslmed.3001720. PMID: 21148127

Clinical prediction guides

Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Adenomyosis pathogenesis: insights from next-generation sequencing.
Bulun SE, Yildiz S, Adli M, Wei JJ
Hum Reprod Update 2021 Oct 18;27(6):1086-1097. doi: 10.1093/humupd/dmab017. PMID: 34131719Free PMC Article
Therapeutic base editing of human hematopoietic stem cells.
Zeng J, Wu Y, Ren C, Bonanno J, Shen AH, Shea D, Gehrke JM, Clement K, Luk K, Yao Q, Kim R, Wolfe SA, Manis JP, Pinello L, Joung JK, Bauer DE
Nat Med 2020 Apr;26(4):535-541. Epub 2020 Mar 16 doi: 10.1038/s41591-020-0790-y. PMID: 32284612Free PMC Article
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus.
Lo YM, Chan KC, Sun H, Chen EZ, Jiang P, Lun FM, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RW
Sci Transl Med 2010 Dec 8;2(61):61ra91. doi: 10.1126/scitranslmed.3001720. PMID: 21148127

Recent systematic reviews

Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
A Systematic review on diagnostic methods of red cell membrane disorders in Asia.
Silva R, Amarasinghe D, Perera S, Premawardhena A
Int J Lab Hematol 2022 Apr;44(2):248-262. Epub 2022 Jan 23 doi: 10.1111/ijlh.13800. PMID: 35068068
A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease.
Pule GD, Mowla S, Novitzky N, Wiysonge CS, Wonkam A
Expert Rev Hematol 2015 Oct;8(5):669-79. Epub 2015 Sep 1 doi: 10.1586/17474086.2015.1078235. PMID: 26327494Free PMC Article

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