Definitions for fanconi's anaemia
fan·coni's anaemi·a

Princeton's WordNetRate this definition:0.0 / 0 votes

1. Fanconi's anemia, Fanconi's anaemia, congenital pancytopenianoun

   a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow

WikipediaRate this definition:0.0 / 0 votes

1. fanconi's anaemia

   Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), and 90% develop aplastic anemia (the inability to produce blood cells) by age 40. About 60–75% have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of endocrine problem, with varying degrees of severity. FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair via homologous recombination. The well-known cancer susceptibility genes BRCA1 and BRCA2 are also examples of FA genes (FANCS and FANCD1 respectively), and biallelic mutation of any of the two genes usually results in an embryonically lethal outcome, and should the proband come to term, experience a severe form of Fanconi anemia. Treatment with androgens and hematopoietic (blood cell) growth factors can help bone marrow failure temporarily, but the long-term treatment is bone marrow transplant if a donor is available. Because of the genetic defect in DNA repair, cells from people with FA are sensitive to drugs that treat cancer by DNA crosslinking, such as mitomycin C. The typical age of death was 30 years in 2000.FA occurs in about one per 130,000 live births, with a higher frequency in Ashkenazi Jews and Afrikaners in South Africa. The disease is named after the Swiss pediatrician who originally described this disorder, Guido Fanconi. Some forms of Fanconi anemia, such as those of complementation group D1, N, and S, are embryonically lethal in most cases, which might account for the rare observation of these complementation groups. It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi.

ChatGPTRate this definition:0.0 / 0 votes

1. fanconi's anaemia

   Fanconi's anaemia is a rare, inherited blood disorder that leads to bone marrow failure. This condition is characterized by the inability of bone marrow to produce enough new blood cells, leading to lower levels of red and white blood cells and platelets. It also raises the risk of developing cancers, particularly leukaemia or tumours of the head, neck, skin, gastrointestinal system, or genital tract. Other physical abnormalities, such as short stature, heart defects, limb abnormalities, and unusual skin pigmentations, are typically discernible. The condition is most commonly diagnosed in childhood.

Matched Categories

1. • Anemia
   • Genetic Disease

How to pronounce fanconi's anaemia?

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Numerology

1. Chaldean Numerology

   The numerical value of fanconi's anaemia in Chaldean Numerology is: 6

2. Pythagorean Numerology

   The numerical value of fanconi's anaemia in Pythagorean Numerology is: 8

References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=fanconi's anaemia
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Fanconi'S_Anaemia
3. ^ ChatGPT
   https://chat.openai.com