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)]
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| Volume | 02 |
| Issue | 02 |
| Received | April 30, 2024 |
| Accepted | July 19, 2024 |
| Published | August 23, 2024 |