U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair.
Peake JD, Noguchi E
Hum Genet 2022 Dec;141(12):1811-1836. Epub 2022 May 21 doi: 10.1007/s00439-022-02462-9. PMID: 35596788
Multifaceted Fanconi Anemia Signaling.
Che R, Zhang J, Nepal M, Han B, Fei P
Trends Genet 2018 Mar;34(3):171-183. Epub 2017 Dec 16 doi: 10.1016/j.tig.2017.11.006. PMID: 29254745Free 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

Diagnosis

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
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
Diamond-Blackfan anemia.
Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440Free 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
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

Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag.
Duncan BB, Lotter JL, Superata J, Barranta ME, Machado T, Darden I, Venugopal S, Wu CO, Abkowitz JL, Dunbar CE, Young DJ
Br J Haematol 2024 May;204(5):2077-2085. Epub 2024 Mar 10 doi: 10.1111/bjh.19357. PMID: 38462764Free 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
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
Oral cancer in Fanconi anemia: Review of 121 cases.
Furquim CP, Pivovar A, Amenábar JM, Bonfim C, Torres-Pereira CC
Crit Rev Oncol Hematol 2018 May;125:35-40. Epub 2018 Mar 6 doi: 10.1016/j.critrevonc.2018.02.013. PMID: 29650274
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

Prognosis

Aberrant R-loop-mediated immune evasion, cellular communication, and metabolic reprogramming affect cancer progression: a single-cell analysis.
Zhang S, Liu Y, Sun Y, Liu Q, Gu Y, Huang Y, Zeng Z, Tang F, Ouyang Y
Mol Cancer 2024 Jan 10;23(1):11. doi: 10.1186/s12943-023-01924-6. PMID: 38200551Free PMC Article
The Genetic Landscape of Diamond-Blackfan Anemia.
Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT
Am J Hum Genet 2018 Dec 6;103(6):930-947. Epub 2018 Nov 29 doi: 10.1016/j.ajhg.2018.10.027. PMID: 30503522Free 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
Diamond-Blackfan anaemia.
Freedman MH
Baillieres Best Pract Res Clin Haematol 2000 Sep;13(3):391-406. doi: 10.1053/beha.2000.0084. PMID: 11030041

Clinical prediction guides

Aberrant R-loop-mediated immune evasion, cellular communication, and metabolic reprogramming affect cancer progression: a single-cell analysis.
Zhang S, Liu Y, Sun Y, Liu Q, Gu Y, Huang Y, Zeng Z, Tang F, Ouyang Y
Mol Cancer 2024 Jan 10;23(1):11. doi: 10.1186/s12943-023-01924-6. PMID: 38200551Free 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
The Genetic Landscape of Diamond-Blackfan Anemia.
Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT
Am J Hum Genet 2018 Dec 6;103(6):930-947. Epub 2018 Nov 29 doi: 10.1016/j.ajhg.2018.10.027. PMID: 30503522Free PMC Article
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J
Blood 2011 Apr 7;117(14):3759-69. Epub 2011 Jan 27 doi: 10.1182/blood-2010-08-299917. PMID: 21273304Free PMC Article
Diamond-Blackfan anemia.
Krijanovski OI, Sieff CA
Hematol Oncol Clin North Am 1997 Dec;11(6):1061-77. doi: 10.1016/s0889-8588(05)70483-4. PMID: 9443046

Recent systematic reviews

Longitudinal clinical manifestations of Fanconi anemia: A systematized review.
Hoover A, Turcotte LM, Phelan R, Barbus C, Rayannavar A, Miller BS, Reardon EE, Theis-Mahon N, MacMillan ML
Blood Rev 2024 Nov;68:101225. Epub 2024 Aug 2 doi: 10.1016/j.blre.2024.101225. PMID: 39107201Free PMC Article
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
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

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...