Fanconi anaemia


Also found in: Medical, Wikipedia.

Fanconi anaemia

(fænˈkəʊnɪ)
n
(Pathology) a rare genetic disorder that can cause bone marrow failure, leukaemia, and tumours
[C20: after Guido Fanconi (1892–1979), Swiss doctor who first described the disorder]
References in periodicals archive ?
Fanconi anaemia is an inherited blood disorder which causes leukaemia in children, leaving them in desperate need of a bone marrow transplant.
Fanconi anaemia affects one in 130,000 people, and those diagnosed have an average life expectancy of just 30.
"Although we have got this condition and we've had a rough year, it just makes you appreciate everything "We're lucky and thankful." Fanconi anaemia affects one in 130,000 people, and those diagnosed have an average life expectancy of just 30.
Fanconi anaemia (FA) is an inherited disorder of impaired DNA repair, first described by Swiss paediatrician Guido Fanconi in 1927 and since then extensively documented in individuals of diverse ethnic origin.
Fanconi anaemia (FA) is a rare genetic condition of impaired DNA repair mechanisms and chromosomal instability.
They observed that there was an early onset of cancer and toxicity to chemotherapy, but the patients did not present any congenital malformations or haematological phenotype which could suggest being affected by Fanconi anaemia, a rare disease which affects one out of every 100,000 children.
Diagnosed with rare blood disorder Fanconi Anaemia in September 2013, a bone marrow transplant in July 2015 at Newcastle's Royal Victoria Infirmary failed.
D'Ischia et al., "Oxidative stress as a multiple effector in Fanconi anaemia clinical phenotype," European Journal of Haematology, vol.
Lebel et al., "Mitochondrial dysfunction in some oxidative stress-related genetic diseases: ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome," Biogerontology, vol.
Besides thalassaemia, aplastic anaemia and fanconi anaemia are two other common diseases found in the area which are treated by bone marrow transplant, he said.
Fanconi anaemia (FA) is characterised by interstrand crosslink-induced chromosome breaks, [1] congenital abnormalities (including radial-ray aplasia, heart and kidney malformations), [2] bone marrow failure, [3] and predisposition to haematological and solid malignancies.