FAQ - Fanconi Anemia
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fanconi anemia?


where can i find info on the history of fanconi anemia? stuff about the discovery and who discovered it and what were the first treatments and stuff. i cant find any good sites, plz if u know share :) id really appreciate it
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Fanconi Anemia????.........?


My son is 20months old, and suffers with a heart murmor and radial dysplasia. He had blood tests done yesterday for the above condition. Can anyone explain what this is in easy terms, ive heard it can cause cancer, is this true?
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Fanconi anemia (FA) is a genetic disease that affects children and adults from all ethnic backgrounds. The disease is named after the Swiss pediatrician who originally described this disorder, Guido Fanconi.[1][2] It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi.

FA is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure (aplastic anemia), and cellular sensitivity to DNA damaging agents such as mitomycin C.

Speak to your GP. He will be able to explain in simple terms.  (+ info)

Fanconi anemia.............?


anyone have any personal experience with it? in an infant especially?
thanks........we are all fine we just did away with the internet at home so I am never on...........
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I haven't had any personal experience with this, but I just wanted to let you know that I've been thinking about you and wondering how you and your girls are.

Edit: Big change, huh? I'm not sure I could handle that.

I'll look around online for some support groups or personal experience sites and email them to you if I find anything useful.  (+ info)

What is the prognosis for people with fanconi anemia?


I've heard that it is normally diagnosed in late childhood, but do people with the condition have normal life spans with management of their symptoms?
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Many patients eventually develop acute myelogenous leukemia (AML). Older patients are extremely likely to develop head and neck, esophageal, gastrointestinal, vulvar and anal cancers. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer. Many patients do not reach adulthood.

The overarching medical challenge that Fanconi patients face is a failure of their bone marrow to produce blood cells. In addition, Fanconi patients normally are born with a variety of birth defects. For instance, 90% of the Jewish children born with Fanconi's have no thumbs. A good number of Fanconi patients have kidney problems, trouble with their eyes, developmental retardation and other serious defects, such as microcephaly (small head).[citation needed]

Good care is available for treating Fanconi anemia. Since research is on-going, there is hope that as knowledge gained through clinical trials and research grows, a cure may be developed.  (+ info)

How do i know if i have fanconi anemia?


How do i know?
Oh dont have its for a project and i want to know how do i know when someone has it and can i have some pics of poeple with it and can someone help me make a power point with it (it=information).

Please i really need help on this and i dont know how to do it.
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Here's a site;
http://www.mazornet.com/genetics/fanconi_anemia.htm  (+ info)

What is the cause of Fanconi Anemia ?


Every thing i've researched just tells me that its inherited and stuff.
But I want to know what goes wrong in the body that makes a person get it in the first place.
Anyone know ?
Thanks :)
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All I could find was that it is inherited, and that at least 13 faulty genes are associated with FA. FA develops if both parents pass the same faulty FA gene to their child. Children whose parents both carry the same faulty gene are at greatest risk for inheriting FA. Even if these children aren't born with FA, they're still at risk of being FA carriers. Children who have only one parent who carries a faulty FA gene also are at risk of being carriers. However, they're not at risk of being born with FA. I've linked a couple of sites, one for Fanconi Anemia and one for general info on Anemia.  (+ info)

Does anyone know about fanconi anemia? Not sickle cell, fanconi. Much appreciated to anyone who can help me!?


I'm doing a report on Fanconi Anemia, and I really need help getting information about it. Most searches come up with Sickle cell or regular anemia because they are more common. Please help me!!!! It's 50% of my grade!!!
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Fanconi's anemia is an autosomal recessive disorder of bone marrow progenitor cells that causes macrocytosis and reticulocytopenia with progressive failure of all hematopoietic cell lines. It is usually diagnosed after the neonatal period. The cause is a genetic defect that prevents cells from repairing damaged DNA or removing toxic free radicals that damage cells.
A very rare form of aplastic anemia, Fanconi's anemia (a type of familial aplastic anemia with bone abnormalities, microcephaly, hypogonadism, and brown pigmentation of skin) occurs in children with abnormal chromosomes. Fanconi's anemia is often inapparent until some illness (especially an acute infection or inflammatory disorder) supervenes, causing peripheral cytopenias. With clearing of the supervening illness, peripheral values return to normal despite reduced marrow mass.  (+ info)

is there anyone out there who suffers from or is a parent of a child with fanconi anemia as my son as fanconi?


my son suffers with the rare disease fanconi anemia and im trying to find anyone else in the same situation to talk to about it as its very rare we have never met or spoke to anyone with the disease
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put it in the yahoo search. I did and came up with a site just for you. you can do it.  (+ info)

How many people have fanconi anemia?


what are the statistics
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I don't know how many, but it is a very rare, incurable kidney disease that usually begins at infancy. It can be determined by a high level of glucos in the urine. Kidney transplantation bay be lifesaving.  (+ info)

How Common is Fanconi- Anemia?


Hi! I am doing a genetic report on Fanconi Anemia. I was wondering if anyone knew how common it is for a child/adult to be diagnosed with it. If you could please include statistics and your source. Thank you so much!!
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Google it like I did, it is rare.  (+ info)

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