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Hypoplastic anemia - familial

MedGen UID:
182696
•Concept ID:
C0949116
•
Disease or Syndrome
Synonyms: Anemia, Congenital Hypoplastic; Anemia, Hypoplastic, Congenital; Anemias, Congenital Hypoplastic; Congenital Hypoplastic Anemia; Congenital Hypoplastic Anemias; Hypoplastic Anemia, Congenital; Hypoplastic Anemias, Congenital
SNOMED CT: Hypoplastic anemia - familial (28975000); Familial hypoplastic anemia (88854002)

Definition

An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplastic anemia - familial

Professional guidelines

PubMed

Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel
Lancet Haematol 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. PMID: 38697731
Management of Fanconi anemia beyond childhood.
Olson TS
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):556-562. doi: 10.1182/hematology.2023000489. PMID: 38066849Free PMC Article
Genotype-phenotype associations in Fanconi anemia: A literature review.
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP
Blood Rev 2019 Sep;37:100589. Epub 2019 Jul 16 doi: 10.1016/j.blre.2019.100589. PMID: 31351673Free PMC Article

Recent clinical studies

Etiology

Identification of a robust DNA methylation signature for Fanconi anemia.
Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M
Am J Hum Genet 2023 Nov 2;110(11):1938-1949. Epub 2023 Oct 20 doi: 10.1016/j.ajhg.2023.09.014. PMID: 37865086Free PMC Article
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A, Chandrasekharappa SC
Hum Mutat 2018 Feb;39(2):237-254. Epub 2017 Nov 22 doi: 10.1002/humu.23366. PMID: 29098742Free PMC Article
Fanconi Anemia Signaling and Cancer.
Nepal M, Che R, Zhang J, Ma C, Fei P
Trends Cancer 2017 Dec;3(12):840-856. Epub 2017 Nov 10 doi: 10.1016/j.trecan.2017.10.005. PMID: 29198440Free PMC Article
Fanconi anemia pathway.
Rodríguez A, D'Andrea A
Curr Biol 2017 Sep 25;27(18):R986-R988. doi: 10.1016/j.cub.2017.07.043. PMID: 28950089
Fanconi anemia.
Green AM, Kupfer GM
Hematol Oncol Clin North Am 2009 Apr;23(2):193-214. doi: 10.1016/j.hoc.2009.01.008. PMID: 19327579Free PMC Article

Diagnosis

RUNX1 mutations mitigate quiescence to promote transformation of hematopoietic progenitors in Fanconi anemia.
Marion W, Koppe T, Chen CC, Wang D, Frenis K, Fierstein S, Sensharma P, Aumais O, Peters M, Ruiz-Torres S, Chihanga T, Boettcher S, Shimamura A, Bauer DE, Schlaeger T, Wells SI, Ebert BL, Starczynowski D, da Rocha EL, Rowe RG
Leukemia 2023 Aug;37(8):1698-1708. Epub 2023 Jun 30 doi: 10.1038/s41375-023-01945-6. PMID: 37391485Free PMC Article
Modern management of Fanconi anemia.
Dufour C, Pierri F
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):649-657. doi: 10.1182/hematology.2022000393. PMID: 36485157Free PMC Article
Ribosomopathies: There's strength in numbers.
Mills EW, Green R
Science 2017 Nov 3;358(6363) doi: 10.1126/science.aan2755. PMID: 29097519
Fanconi anemia.
Green AM, Kupfer GM
Hematol Oncol Clin North Am 2009 Apr;23(2):193-214. doi: 10.1016/j.hoc.2009.01.008. PMID: 19327579Free PMC Article
Diamond-Blackfan anemia.
Da Costa L, Willig TN, Fixler J, Mohandas N, Tchernia G
Curr Opin Pediatr 2001 Feb;13(1):10-5. doi: 10.1097/00008480-200102000-00002. PMID: 11176237

Therapy

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
How I manage children with Diamond-Blackfan anaemia.
Bartels M, Bierings M
Br J Haematol 2019 Jan;184(2):123-133. Epub 2018 Dec 4 doi: 10.1111/bjh.15701. PMID: 30515771Free PMC Article
Pure red cell aplasia.
Means RT Jr
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):51-56. doi: 10.1182/asheducation-2016.1.51. PMID: 27913462Free PMC Article
Fanconi anemia.
Green AM, Kupfer GM
Hematol Oncol Clin North Am 2009 Apr;23(2):193-214. doi: 10.1016/j.hoc.2009.01.008. PMID: 19327579Free PMC Article
Inherited aplastic anaemia.
Dokal I
Hematol J 2003;4(1):3-9. doi: 10.1038/sj.thj.6200215. PMID: 12692514

Prognosis

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A, Chandrasekharappa SC
Hum Mutat 2018 Feb;39(2):237-254. Epub 2017 Nov 22 doi: 10.1002/humu.23366. PMID: 29098742Free PMC Article
Fanconi Anemia Signaling and Cancer.
Nepal M, Che R, Zhang J, Ma C, Fei P
Trends Cancer 2017 Dec;3(12):840-856. Epub 2017 Nov 10 doi: 10.1016/j.trecan.2017.10.005. PMID: 29198440Free PMC Article
Thrombocytopenia in the neonate.
Roberts I, Stanworth S, Murray NA
Blood Rev 2008 Jul;22(4):173-86. Epub 2008 Apr 22 doi: 10.1016/j.blre.2008.03.004. PMID: 18433954
Fanconi anemia in Ashkenazi Jews.
Kutler DI, Auerbach AD
Fam Cancer 2004;3(3-4):241-8. doi: 10.1007/s10689-004-9565-8. PMID: 15516848
Congenital hypoplastic anemia.
Diamond LK, Wang WC, Alter BP
Adv Pediatr 1976;22:349-78. PMID: 773132

Clinical prediction guides

Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
Da Costa L, Mohandas N, David-NGuyen L, Platon J, Marie I, O'Donohue MF, Leblanc T, Gleizes PE
Blood Cells Mol Dis 2024 May;106:102838. Epub 2024 Feb 17 doi: 10.1016/j.bcmd.2024.102838. PMID: 38413287
RUNX1 mutations mitigate quiescence to promote transformation of hematopoietic progenitors in Fanconi anemia.
Marion W, Koppe T, Chen CC, Wang D, Frenis K, Fierstein S, Sensharma P, Aumais O, Peters M, Ruiz-Torres S, Chihanga T, Boettcher S, Shimamura A, Bauer DE, Schlaeger T, Wells SI, Ebert BL, Starczynowski D, da Rocha EL, Rowe RG
Leukemia 2023 Aug;37(8):1698-1708. Epub 2023 Jun 30 doi: 10.1038/s41375-023-01945-6. PMID: 37391485Free PMC Article
Fanconi anemia-associated chromosomal radial formation is dependent on POLθ-mediated alternative end joining.
Rogers CB, Kram RE, Lin K, Myers CL, Sobeck A, Hendrickson EA, Bielinsky AK
Cell Rep 2023 May 30;42(5):112428. Epub 2023 Apr 21 doi: 10.1016/j.celrep.2023.112428. PMID: 37086407Free PMC Article
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A, Chandrasekharappa SC
Hum Mutat 2018 Feb;39(2):237-254. Epub 2017 Nov 22 doi: 10.1002/humu.23366. PMID: 29098742Free PMC Article
The Fanconi anemia pathway and ubiquitin.
Jacquemont C, Taniguchi T
BMC Biochem 2007 Nov 22;8 Suppl 1(Suppl 1):S10. doi: 10.1186/1471-2091-8-S1-S10. PMID: 18047734Free PMC Article

Recent systematic reviews

Oral cancer and oral potentially malignant disorders in patients with Fanconi anemia - A systematic review.
Santana NCM, de Sena ACVP, Rocha PADS, de Arruda JAA, Torres-Pereira CC, Abreu LG, Fournier BPJ, Warnakulasuriya S, Silva TA
Oral Oncol 2024 Mar;150:106699. Epub 2024 Feb 3 doi: 10.1016/j.oraloncology.2024.106699. PMID: 38309198
Systemic conditions associated with increased risk to develop oral squamous cell carcinoma: Systematic review and meta-analysis.
Dos Santos ES, Pérez-de-Oliveira ME, Normando AGC, Gueiros LAM, Rogatto SR, Vargas PA, Lopes MA, da Silva Guerra EN, Leme AFP, Santos-Silva AR
Head Neck 2022 Dec;44(12):2925-2937. Epub 2022 Sep 16 doi: 10.1002/hed.27193. PMID: 36114663
Treatment of Fanconi Anemia-Associated Head and Neck Cancer: Opportunities to Improve Outcomes.
Lee RH, Kang H, Yom SS, Smogorzewska A, Johnson DE, Grandis JR
Clin Cancer Res 2021 Oct 1;27(19):5168-5187. doi: 10.1158/1078-0432.CCR-21-1259. PMID: 34045293Free PMC Article
Role of gene therapy in Fanconi anemia: A systematic and literature review with future directions.
Shafqat S, Tariq E, Parnes AD, Dasouki MJ, Ahmed SO, Hashmi SK
Hematol Oncol Stem Cell Ther 2021 Dec;14(4):290-301. Epub 2021 Mar 7 doi: 10.1016/j.hemonc.2021.02.001. PMID: 33736979
Systematic review and individual patient data analysis of pediatric head and neck squamous cell carcinoma: An analysis of 217 cases.
Bhanu Prasad V, Mallick S, Upadhyay AD, Rath GK
Int J Pediatr Otorhinolaryngol 2017 Jan;92:75-81. Epub 2016 Nov 12 doi: 10.1016/j.ijporl.2016.11.005. PMID: 28012539

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