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Doctor insights on: Fanconi Anemia Dna Mutation

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Can a baby inherit fanconi anemia or is it a new mutation?

Can a baby inherit fanconi anemia or is it a new mutation?

Inherited: Fanconi anemia (fa) is the most common form of inherited aplastic anemia . It is an autosomal recessive or x-linked disorder that occurs in all races and ethnic groups. Multiple genes appear to be responsible for fa and are widely dispersed throughout the genome, including the x chromosome. Several of these genes are tumor suppressor genes. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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Can a baby inherit fanconi anemia or is it a new mutation?

Inherited: Fanconi anemia (fa) is the most common form of inherited aplastic anemia . It is an autosomal recessive or x-linked disorder that occurs in all races and ethnic groups. Multiple genes appear to be responsible for fa and are widely dispersed throughout the genome, including the x chromosome. Several of these genes are tumor suppressor genes. ...Read more

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What can you tell me about fanconi anemia?

What can you tell me about fanconi anemia?

Very serious: This is a family of autosomal recessive genetic disorders involving defective DNA repair. The diagnosis can only be made by a subspecialty genetics lab, and a majority eventually develop leukemia; there is also a much greater tendency to develop other solid organ cancers. ...Read more

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Is fanconi anemia an autosomal or sex-linked illness?

Is fanconi anemia an autosomal or sex-linked illness?

Mostly autosomal: There are several genes involved in fanconi anemia. Any disruption of one of these genes can result in fanconi anemia. Most of the genes are not on the sex chromosomes (autosomal). Both genes must be abnormal to result in the anemia (autosomal recessive)". Rare disruption i the gene on thex chromosome can result in disease that is x-linked. ...Read more

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Child newly diagnosed with fanconi anemia not on medication as yet but has green stools, should I be worried?

Child newly diagnosed with fanconi anemia not on medication as yet but has green stools, should I be worried?

Previous meals: Look at your child's previous meals, it might just be that. Usually your bgger concern would be black streaks or red streaks in the stool. Green colored poop could be anything they drank or ate even a lollipop can do that ...Read more

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8 yr old boy diagnosed with fanconi anemia, at present he has regular blood tests and blood counts are slightly low, could he live a long normal life?

8 yr old boy diagnosed with fanconi anemia,  at present he has regular blood tests and blood counts are slightly low, could he live a long normal life?

It is possible.: Fanconia anemia is a cluster of diseases related to 15 different genes. Anemia, bone marrow failure, an increased risk of cancer, and physical abnormalities are seen, but vary between affected children. Survival to 40-50 is often possible with modern management. With better management of the bone marrow failure (transplant) and cancer risks, it could be as long or longer for this 8 year old. ...Read more

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Could fanconi anemia can be treated in ceragem?

Could fanconi anemia can be treated in ceragem?

Don't expect help: "Ceragem" is a supposedly magic bed that gives thermal massage. It's bad enough to have a very serious illness like Fanconi's anemia. It's also bad that people will take advantage of your desperation by trying to sell you something that might make you more comfortable but won't touch this illness. Be discerning and don't reward people who may have given you veiled misinformation. ...Read more

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8 yr old with fanconi anemia, can he still go to school? Play with friends like normal? Only symptoms are slightly low blood counts, am scared for him

8 yr old with fanconi anemia, can he still go to school? Play with friends like normal? Only symptoms are slightly low blood counts, am scared for him

Normal Activity OK: 8 y.o., Fanconi Anemia(FA), a genetic disorder of DNA repair; causes anemia thru bone marrow failure; many have malformations of foream, kidneys, & more however 25% lack physical anomalies. Degree of anemia dictates treatment. With "slightly low blood cts", your son can be allowed to do the normal things that 8 yr olds do but needs regular checks of blood & bone marrow by his Hematology Specialist ...Read more

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What is fanconi anemia?

What is fanconi anemia?

Low blood production: Fa is an inherited disorder of blood cell production. It usually develops slowly over years. The blood counts are abnormal, and this be treated with medications or bone marrow transplant. These patients will also have a tendency to develop certain cancers. Fa patients can be short and have skeletal abnormalities, commonly abnormal thumbs. ...Read more

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My childs been diagnosed with Fanconi anemia, am do confused what's the prognosis any information would be great?

FA: FA is a genetic disorder, autosomal recessive, characterized by progressive bone marrow failure (low blood count), skeletal abnormalities, and increased risk of leukemia and other cancers. It involves in the defect in DNA repair. Supportive and androgen may improve blood count. Stem cell transplantation may provide a cure. See FA specialist. ...Read more

Dr. Steven Ginsberg
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Anemia (Definition)

Anemia refers to any condition where there is a decrease in the red blood cells in the body. There are numerous causes of anemia but they can basically be broken down into 3 categories: decreased production of red blood cells increased destruction of red ...Read more


Dna (Definition)

Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more