Hemin Johnson,
- Lecturer Jubilee Mission College of Nursing Karnataka India
Abstract
Fanconi anaemia (FA) is a very rare genetic disorder that results from DNA repair defects arising from pathogenic variants in of 21 gene. It is the most common cause of inherited bone marrow failure characterized by pancytopenia. It is clinically characterized by congenital malformations that affects various human system results in progressive failure in bone marrow also the individual to cancer, particularly in the urogenital area along with the head and neck. We have about 20FA genes, but not all of them are affected when gene mutate. FA genes protect us from DNA damage that happens throughout life. Mostly of about 1 from 136000 newborns has Fanconi anaemia of which from 1 in 100000 to 250000 births. 80% to 90% of cases of Fanconi anaemia are due to mutations in one of three genes, FANCA, FANCC, and FANCG. Clinical manifestations are early childhood or during young adulthood. Signs and symptoms at birth are growth deficiencies, skeletal anomalies, small head or eyes, abnormal skin pigmentations, etc. The symptoms among young childhood are unexplained fatigue, frequent infections, frequent nosebleeds, easy bruising, blood in the stool or urine also haematological problems. There are several diseases associated with FA are Diamond blackfan anaemia (DBA), Paroxysmal nocturnal Haemoglobinuria (PNH), Schwachman – Diamond Syndrome (SDS), and Bloom Syndrome (BS). Diagnostic evaluation is Array comparative genomic hybridization (array-CGH), cytogenic testing, molecular testing. Treatment like administration of oral androgens, advice for HSCT, administer for vitamin D supplementation, other therapies, hearing aid, administer for blood transfusion and genetic counselling.
Keywords: Fanconi anaemia (FA), FANCA, FANCC, FANCG, Schwachman – Diamond Syndrome (SDS), and Bloom Syndrome (BS), Array comparative genomic hybridization (array-CGH)
[This article belongs to International Journal of Oncological Nursing and Practices(ijonnp)]
References
- Alter BP. Fanconi Anemia. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003:366.
- Buyse ML. Editor-in-Chief. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications. Center for Birth Defects Information Services, Inc.; 1990:1359-61,1784.
- Mehta PA, Tolar J. Fanconi Anemia. 2002 Feb 14 [Updated 2018 Mar 8]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1401/ Accessed May 4, 2020.
- Frohnmayer D, Frohnmayer L, Guinan E, Kennedy T, Larsen K, Editors. Fanconi Anemia: Guidelines for Diagnosis and Management, Fourth Edition, 2014. Fanconi Anemia Research Fund, Inc. Available at: https://www.fanconi.org/images/uploads/other/Guidelines_4th_Edition.pdf Accessed May 4, 2020.
- Moustacchi E. Fanconi Anemia. Orphanet. Last Update November 2011. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=84 Accessed May 4, 2020.
- National Institutes of Health. What is Fanconi Anemia? Last Update November 1, 2011. https://www.nhlbi.nih.gov/health-topics/fanconi-anemia Accessed May 4, 2020.
- National Organization for Rare Diseases. Fanconi Anemia. (https://rarediseases.org/rare-diseases/fanconi-anemia/) Accessed 4/15/2022.
- Fanconi Anaemia (https://www.childrenshospital.org/conditions/fanconi-anemia) Accessed 22/04/2024.
- Oostra AB, Nieuwint AWM, Joenje H, de Winter JP. Diagnosis of Fanconi anaemia: chromosomal breakage analysis. Anaemia. 2012.
- Jenish Bhandari; Pawan K. Thada; Yana Puckett. Fanconi Anaemia: 2022 in Journal of National library of medicine.
- Parinda D Mehta, et al….. Genereviews of Fanconi anaemia: 2022
- Kaseb H, Hozayen S. Chromosome Instability Syndromes. StatPearls. 2020 Jan. [QxMD MEDLINE Link]. [Full Text].
- Keefe P, Bokhari SRA. Fanconi Syndrome. StatPearls. 2020 Jan. [QxMD MEDLINE Link]. [Full Text].
- Dalle JH. HSCT for Fanconi anemia in children: factors that influence early and late results. Bone Marrow Transplant. 2008 Oct. 42 Suppl 2:S51-3. [QxMD MEDLINE Link].
- Pasquini R, Carreras J, Pasquini MC, et al. HLA-matched sibling hematopoietic stem cell transplantation for fanconi anemia: comparison of irradiation and nonirradiation containing conditioning regimens. Biol Blood Marrow Transplant. 2008 Oct. 14(10):1141-7. [QxMD MEDLINE Link]. [Full Text].
- Mitchell R, Wagner JE, Hirsch B, DeFor TE, Zierhut H, MacMillan ML. Haematopoietic cell transplantation for acute leukaemia and advanced myelodysplastic syndrome in Fanconi anaemia. Br J Haematol. 2014 Feb. 164 (3):384-95. [QxMD MEDLINE Link]. [Full Text].
- Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. 2010 May. 24(3):101-22. [QxMD MEDLINE Link]. [Full Text].
- Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res. 2009 Jul 31;668(1-2):4-10. doi: 10.1016/j.mrfmmm.2009.01.013. Epub 2009 Feb 28. Citation on PubMed or Free article on PubMed Central
- de Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res. 2009 Jul 31;668(1-2):11-9. doi: 10.1016/j.mrfmmm.2008.11.004. Epub 2008 Nov 14. Citation on PubMed
- Deakyne JS, Mazin AV. Fanconi anemia: at the crossroads of DNA repair. Biochemistry (Mosc). 2011 Jan;76(1):36-48. doi: 10.1134/s0006297911010068. Citation on PubMed
- Green AM, Kupfer GM. Fanconi anemia. Hematol Oncol Clin North Am. 2009 Apr;23(2):193-214. doi: 10.1016/j.hoc.2009.01.008. Citation on PubMed
- Shimamura A, Alter BP. Pathophysiology and Management of Inherited Bone Marrow Failure Syndromes. Blood Reviews. 2010;24:101-122.
Volume | 02 |
Issue | 02 |
Received | April 30, 2024 |
Accepted | July 19, 2024 |
Published | August 23, 2024 |