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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

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
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
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

Diagnosis

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
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
Fanconi anaemia.
Tischkowitz MD, Hodgson SV
J Med Genet 2003 Jan;40(1):1-10. doi: 10.1136/jmg.40.1.1. PMID: 12525534Free PMC Article

Therapy

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
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez AM, Rosenberg A, Luo JD, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A
Nature 2022 Dec;612(7940):495-502. Epub 2022 Nov 30 doi: 10.1038/s41586-022-05253-4. PMID: 36450981Free 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
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

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

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
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
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

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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