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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
Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management.
Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR
Curr Med Chem 2019;26(37):6766-6775. doi: 10.2174/0929867325666180705145900. PMID: 29984642
Diagnosis and management of rare congenital nonimmune hemolytic disease.
Gallagher PG
Hematology Am Soc Hematol Educ Program 2015;2015:392-9. doi: 10.1182/asheducation-2015.1.392. PMID: 26637748

Recent clinical studies

Etiology

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
Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer.
Moyer CL, Ivanovich J, Gillespie JL, Doberstein R, Radke MR, Richardson ME, Kaufmann SH, Swisher EM, Goodfellow PJ
Cancer Res 2020 Feb 15;80(4):857-867. Epub 2019 Dec 10 doi: 10.1158/0008-5472.CAN-19-1991. PMID: 31822495Free PMC Article
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
Benyamin B, Esko T, Ried JS, Radhakrishnan A, Vermeulen SH, Traglia M, Gögele M, Anderson D, Broer L, Podmore C, Luan J, Kutalik Z, Sanna S, van der Meer P, Tanaka T, Wang F, Westra HJ, Franke L, Mihailov E, Milani L, Hälldin J, Winkelmann J, Meitinger T, Thiery J, Peters A, Waldenberger M, Rendon A, Jolley J, Sambrook J, Kiemeney LA, Sweep FC, Sala CF, Schwienbacher C, Pichler I, Hui J, Demirkan A, Isaacs A, Amin N, Steri M, Waeber G, Verweij N, Powell JE, Nyholt DR, Heath AC, Madden PA, Visscher PM, Wright MJ, Montgomery GW, Martin NG, Hernandez D, Bandinelli S, van der Harst P, Uda M, Vollenweider P, Scott RA, Langenberg C, Wareham NJ; InterAct Consortium, van Duijn C, Beilby J, Pramstaller PP, Hicks AA, Ouwehand WH, Oexle K, Gieger C, Metspalu A, Camaschella C, Toniolo D, Swinkels DW, Whitfield JB
Nat Commun 2014 Oct 29;5:4926. doi: 10.1038/ncomms5926. PMID: 25352340Free PMC Article
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

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
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
Deoxyuracil in DNA in health and disease.
Chakraborty J, Stover PJ
Curr Opin Clin Nutr Metab Care 2020 Jul;23(4):247-252. doi: 10.1097/MCO.0000000000000660. PMID: 32398439Free PMC Article
Pharmacokinetics, pharmacodynamics and safety of aptamers.
Kovacevic KD, Gilbert JC, Jilma B
Adv Drug Deliv Rev 2018 Sep;134:36-50. Epub 2018 Oct 12 doi: 10.1016/j.addr.2018.10.008. PMID: 30321620
Uric acid nephrolithiasis.
Halabe A, Sperling O
Miner Electrolyte Metab 1994;20(6):424-31. PMID: 7783706

Prognosis

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
Novel therapies in low- and high-risk myelodysplastic syndrome.
Germing U, Schroeder T, Kaivers J, Kündgen A, Kobbe G, Gattermann N
Expert Rev Hematol 2019 Oct;12(10):893-908. Epub 2019 Jul 31 doi: 10.1080/17474086.2019.1647778. PMID: 31353975
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

Therapeutic adenine base editing of human hematopoietic stem cells.
Liao J, Chen S, Hsiao S, Jiang Y, Yang Y, Zhang Y, Wang X, Lai Y, Bauer DE, Wu Y
Nat Commun 2023 Jan 13;14(1):207. doi: 10.1038/s41467-022-35508-7. PMID: 36639729Free 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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