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Constitutional aplastic anemia

MedGen UID:
152378
•Concept ID:
C0702159
•
Disease or Syndrome
Synonym: Congenital aplastic anemia
SNOMED CT: Congenital aplastic anemia (28975000); Constitutional aplastic anemia (28975000)

Definition

familial or idiopathic form, usually fatal; Fanconi''s anemia presents before age 10, marked by microcephaly, skin discolorations, and sexual and mental retardation. [from CRISP]

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
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees, Lalloo F
J Med Genet 2023 May;60(5):417-429. Epub 2022 Nov 21 doi: 10.1136/jmg-2022-108898. PMID: 36411032Free 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

Squamous cell carcinoma of the tongue in a patient with Fanconi's anemia: a case report and review of the literature.
Oksüzoğlu B, Yalçin S
Ann Hematol 2002 May;81(5):294-8. Epub 2002 May 3 doi: 10.1007/s00277-002-0455-6. PMID: 12029542
Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation.
Ghavamzadeh A, Alimoghadam K, Nasseri P, Jahani M, Khodabandeh A, Ghahremani G
Bone Marrow Transplant 1999 Feb;23(3):299-301. doi: 10.1038/sj.bmt.1701567. PMID: 10084264
Conception after iodine-131 therapy for differentiated thyroid cancer.
Ayala C, Navarro E, Rodríguez JR, Silva H, Venegas E, Astorga R
Thyroid 1998 Nov;8(11):1009-11. doi: 10.1089/thy.1998.8.1009. PMID: 9848714
Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience.
Altay C, Alikaşifoglu M, Kara A, Tunçbilek E, Ozbek N, Schroeder-Kurth TM
Clin Genet 1997 May;51(5):296-302. doi: 10.1111/j.1399-0004.1997.tb02477.x. PMID: 9212176

Diagnosis

Fanconi's constitutional aplastic anemia.
Bhatnagar S, Chandra J, Narayan S, Jain V
Indian Pediatr 1999 Jul;36(7):722-3. PMID: 10740314
Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience.
Altay C, Alikaşifoglu M, Kara A, Tunçbilek E, Ozbek N, Schroeder-Kurth TM
Clin Genet 1997 May;51(5):296-302. doi: 10.1111/j.1399-0004.1997.tb02477.x. PMID: 9212176
gamma-Interferon gene expression in the bone marrow of patients with aplastic anemia.
Nisticò A, Young NS
Ann Intern Med 1994 Mar 15;120(6):463-9. doi: 10.7326/0003-4819-120-6-199403150-00003. PMID: 8311369
Fanconi anemia: constitutional aplastic anemia.
Gordon-Smith EC, Rutherford TR
Semin Hematol 1991 Apr;28(2):104-12. PMID: 1876859
Constitutional aplastic anemia.
Pandita R, Quadri MI
Indian Pediatr 1988 May;25(5):469-72. PMID: 3229818

Therapy

Nontransplant therapy for bone marrow failure.
Townsley DM, Winkler T
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):83-89. doi: 10.1182/asheducation-2016.1.83. PMID: 27913466Free PMC Article
Conception after iodine-131 therapy for differentiated thyroid cancer.
Ayala C, Navarro E, Rodríguez JR, Silva H, Venegas E, Astorga R
Thyroid 1998 Nov;8(11):1009-11. doi: 10.1089/thy.1998.8.1009. PMID: 9848714
Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience.
Altay C, Alikaşifoglu M, Kara A, Tunçbilek E, Ozbek N, Schroeder-Kurth TM
Clin Genet 1997 May;51(5):296-302. doi: 10.1111/j.1399-0004.1997.tb02477.x. PMID: 9212176
Constitutional aplastic anemia.
Pandita R, Quadri MI
Indian Pediatr 1988 May;25(5):469-72. PMID: 3229818
Lymphocyte subpopulations and lymphokine production in children with constitutional aplastic anemia.
Dohlsten M, Hedlund G, Bekassy AN, Lindén O, Garwicz S, Wiebe T, Sjögren HO, Carlsson R
Pediatr Hematol Oncol 1988;5(2):143-51. doi: 10.3109/08880018809031264. PMID: 2484652

Prognosis

Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation.
Ghavamzadeh A, Alimoghadam K, Nasseri P, Jahani M, Khodabandeh A, Ghahremani G
Bone Marrow Transplant 1999 Feb;23(3):299-301. doi: 10.1038/sj.bmt.1701567. PMID: 10084264
Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience.
Altay C, Alikaşifoglu M, Kara A, Tunçbilek E, Ozbek N, Schroeder-Kurth TM
Clin Genet 1997 May;51(5):296-302. doi: 10.1111/j.1399-0004.1997.tb02477.x. PMID: 9212176

Clinical prediction guides

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I
Blood Cells Mol Dis 2005 May-Jun;34(3):257-63. doi: 10.1016/j.bcmd.2004.12.008. PMID: 15885610
Fanconi's anemia. Clinical study of six cases.
Gastearena J, Giralt M, Orue MT, Oyarzabal FJ, Perez-Equiza E, Uriz MJ
Am J Pediatr Hematol Oncol 1986 Fall;8(3):173-7. PMID: 3766907

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