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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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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

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9 year old, fanconi anemia, RE +1.75/-0.50 x 180 LE +2.25/-0.75 x 30. No obvious cause of low VA'S what could this be? Low conc unable to do fields

9 year old, fanconi anemia, RE +1.75/-0.50 x 180 LE +2.25/-0.75 x 30. No obvious cause of low VA'S what could this be? Low conc unable to do fields

Are you an eye care: ...professional asking for a "curbside consult? " Unfortunately this Q & A format severely restricts the amount of info that can be conveyed. While Fanconi's is thought of as a hematologic condition, the primary defect is in the ability to repair DNA. Thus, its consequences can be far-reaching. Might I suggest u reach out to the patient's hematologist & an ophthalmologist about this? ...Read more

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My son has Fanconi anemia, bloods are only slightly low. He fell on the back of his head onto concrete no swelling or concussion just little red dots?

My son has Fanconi anemia, bloods are only slightly low. He fell on the back of his head onto concrete no swelling or concussion just little red dots?

Fanconi anemia: A child with Faconi anemia has lower than normal, WBC, RBC and platelets (Cells that help the blood clot). A fall on the back of his head onto concrete could cause problem of intracranial bleeding but if the child has been OK (no vomiting, no lethargy, no weakness) for fist 48 hours then probably he is going to be OK. Fanconi anemia patient may have more risk of bleeding. Consult
hematologist ...Read more

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My 8 year old has been diagnosed with fanconi anemia and his left lymph node in left hand side of neck is swollen should I be worried?

My 8 year old has been diagnosed with fanconi anemia and his left lymph node in left hand side of neck is swollen should I be worried?

Likely benign: The lymph node is most likely benign, however it is very important that you discuss it with your treating Haematologist since your child has Fanconi's anemia. At a minimum, it needs to be followed with repeat exams and you may need to have labs done. ...Read more

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Does the WBC count increase in aplastic anemia or fanconi anemia? Does the bone marrow produce enough to cause increase by 1000/ ml of blood?

Does the WBC count increase in aplastic anemia or fanconi anemia? Does the bone marrow produce enough to cause increase by 1000/ ml of blood?

Lower WBC count: Aplastic anemia and to some extent fanconi anemia are associated with low WBC counts as well as low counts of red cells and platelets. Neither is expected to cause a rise in WBC counts. ...Read more

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Hiya, what are the causes of sickle cell anemia? I know it is inherited but I need it explained in a way that can tell me the causes of gene mutation.

Hiya, what are the causes of sickle cell anemia? I know it is inherited but I need it explained in a way that can tell me the causes of gene mutation.

Gene mutations: Are random. The sickle gene confers some resistance to malaria due to the abnormal configuration of hemoglobin. Sickle trait/sickle cell anemia is most prevalent in populations where malaria is or was endemic. It is likely that the mutation conferred some competitive advantage due to its antimalarial effects and was promulgated through natural selection. ...Read more

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How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

Modern synthesis: It's as well-established as anything in science, but would take more than 400 characters to explain. You owe it to yourself, as an educated person who must participate in community decision making, to understand it. There are a huge number of good books on the subject. Best wishes. ...Read more

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What is a hereditary hemochromatosis DNA mutation?

What is a hereditary hemochromatosis DNA mutation?

Gene Mutation: This is a mutation in one of the genes that help to process iron absorption. The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease. ...Read more

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What is the definition or description of: thrombophilia DNA mutation analysis?

What is the definition or description of: thrombophilia DNA mutation analysis?

Test for clotting: Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis). ...Read more

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Can you show me more than 5 syndromes that are cause by DNA mutation such as down syndrome, etc?

Can you show me more than 5 syndromes that are cause by DNA mutation such as down syndrome, etc?

See link: Here is a good starting point for you:

http://www. Ncbi. Nlm. Nih. Gov/books/nbk1116/. ...Read more

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With bipolar ii, adhd, & c ptsd, what additional tests are beneficial? Ie: hormone, neurotransmitter, DNA mutation (mthfr, a1at. ..) methylation etc.

Yes: I would definitely check mthfr and comt. Both these are involved in methylation. One is involved in neurotransmitter synthesis, and the other in breakdown. Therefore polymorphisms can impact mood, etc, and if so, vitamins and supplements can help the methylation cycle. I check mthfr in most of my patients. ...Read more

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Can you explain to me how mutation take place in sickle-cell anemia?

Can you explain to me how mutation take place in sickle-cell anemia?

Important gene...: Sickle cell anemia is caused by a mutation in the gene that tells your body to make hemoglobin. Hemoglobin allows red blood cells to carry oxygen from your lungs to all parts of your body. In sickle cell anemia, the abnormal hemoglobin causes red blood cells to become rigid, sticky and misshapen. These abnormal red blood cells lead to the various symptoms of the disease. ...Read more

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Will all exposure to radiation during treatments for tumors cause damage to DNA or is it possible that the DNA are not affected (no mutations, etc.)?

Will all exposure to radiation during treatments for tumors cause damage to DNA or is it possible that the DNA are not affected (no mutations, etc.)?

Yes it may: Radiation treatment can cause damage to surrounding areas. It may put you at risk for cancer in the future as well. Normally the risk/benefit ratio of radiation treatment is taken into account to treat the tumor now. ...Read more

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Do exposure to radiation during treatments for tumors always cause damage to DNA or is it possible that the DNA are not affected (no mutations, etc.)?

Yes,: Ionizing radiation can cause variety of different dna damages. Radiosensitivity differs in different cell type and tumors. Usually fasting deviding cell types are more susciptible to radiation-induced dna damage during cell proliferation. However, our cells also have an elegant dna damage repair system. Most of the cells can repair the damage by 30 min following exposure to 15 gy radiation. ...Read more

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What details will be included in stool DNA test result? Does it mention found mutations

What details will be included in stool DNA test result? Does it mention found mutations

Not really.: This article might help explain this complicated test. Https://www. Ncbi. Nlm. Nih. Gov/pmc/articles/PMC4606173/
...Read more

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Does a reduced blood flow to the testis reduce the cells ability to repair DNA damage of sperm cells? Hence sperm will have higher mutation rate?

Does a reduced blood flow to the testis reduce the cells ability to repair DNA damage of sperm cells? Hence sperm will have higher mutation rate?

No: I believe the cell would not compromise it's ability to replicate with fidelity for the sake of replication in it of itself at the cost of errors. So, if the cell were starved of oxygen, I think it would simply cease from replicating or die. So, in short, the answer to your question, I think, is no. However, I have not read or seen specific literature on your question and don't know if it exists. ...Read more

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Etiology of DNA mutations?

Etiology of DNA mutations?

Replication error: Most changes in dna come from errors in the duplication of the dna. But changes can occur in the structure from radiation and some chemicals especially those used in chemotherapy. Most mutations are harmless, some are tracked down by your normal reparative mechanism but a few can cause trouble including cancer. ...Read more

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Does reduce blood flow to cells reduce their ability to repair damaged DNA where mutations found in the cells are higher?

Does reduce blood flow to cells reduce their ability to repair damaged DNA where mutations found in the cells are higher?

I doubt it: Your cells are very good at getting the blood they need. If your idea were true, we would see excess skin cancers and sarcomas in the amputated legs of diabetics. We don't. ...Read more

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Since reduced blood flow will cause spermatogonial cell dna repair mechanism & cell replication process to be affected, won’t it cause more mutation?

Since reduced blood flow will cause spermatogonial cell dna repair mechanism & cell replication process to be affected, won’t it cause more mutation?

Some basic science: The fastest dividing cells in the human body are hair and skin, G.I. and sperm. If increasing cell replication caused increased mutations, it would be obvious and a scientific fact. Cell replication is very well protected. The few errors that occur, such as Down syndrome caused by an older father are due to problems and the mechanisms of replication, not mutation ...Read more

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Can one's DNA change during life? Does that mean that different cells in my body might currently have mutations from one another?

DNA does not change: No. Cells can change; they can get damaged; they can be affected by their environment. But, the underlying DNA does not change or mutate. ...Read more

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What kind of gene mutation is canavan disease?

What kind of gene mutation is canavan disease?

Recessive defect: Canavan disease occurs when a baby inherits a mutated gene from both parents, that when normal codes for the production of an enzyme called aspartoacyclase. Having only one mutated gene allows production of the enzyme so carriers (the parents) have no problems. ...Read more

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Could anybody get the mthfr-a1298c gene mutation?

Depends: The MTHFR 1298 mutation is not uncommon, but for any given individual to have the possibility of having it, one or both of their parents must have it. ...Read more

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Is hemophilia a gene mutation?

Yes: Both hemophilia a and b are due to mutations in genes on the x chromosome. ...Read more

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I have prothrombin gene mutation g20210a, I'm pretty sure I follow under a vitamin defect. Is their anything I can do?

I have prothrombin gene mutation g20210a, I'm pretty sure I follow under a vitamin defect. Is their anything I can do?

Prothrombin G20210A: Prothrombin is the precursor of thrombin in the coagulation pathway; it is synthesized in the liver, much as other vitamin k – dependent proteins are. The prothrombin gene is found at 11p11-q12) on chromosome 11.[3] mutation at position 20210 of the gene results in thrombophilia. This coagulopathy is more likely to cause venous thrombosis rather than arterial disease. Is not related to a vitamin deficit. Coumadin (warfarin) is the treatment of choice. You seem to be in the hands of a good hematologist. I am truly sorry to hear about your stroke. I can understand your concerns as I also suffer from three clotting factor disorders and am on coumadin (warfarin). Best wishes for a happy and healthy new year. ...Read more

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If I have the single gene mutation (heterozygote) and am a "silent carrier" for hemochromatosis, will I become iron overloaded?

If I have the single gene mutation (heterozygote) and am a "silent carrier" for hemochromatosis, will I become iron overloaded?

No: Hereditary hemochromatosis develops when you inherit two mutations, one on each of your hfe genes. You have just one. About 1/10 folks with northern european ancestry is a carrier. Carriers don't get iron overload. In fact, most folks with two hfe mutations do not get sick at all, even though for many we can see that they are accumulating a lot of iron. A mystery? Rather. But we're working on it. ...Read more

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How do a gene mutation and a chromosomal mutation differ?

Mutations: A chromosome will contain many genes, so a chromosome mutation will effect many genes. A gene mutation will have an effect only on that gene. ...Read more

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What is a prothrombin gene mutation? What effects does it have on the body?

What is a prothrombin gene mutation? What effects does it have on the body?

Throbophilia: A gain of function mutation of the prothrombin gene results in higher levels of prothrombin, a clotting factor, and predisposes the person to forming clots in blood vessels. You may consult this site for more info: https://www. Healthcare. Uiowa. Edu/labs/lentz/Information_For_Patients/PDF/Prothrombin%20Gene%20Mutation%20Brochure. Pdf
For good health - Have a diet rich in fresh vegetables, fruits, whole grains, milk and milk products, nuts, beans, legumes, lentils and small amounts of lean meats. Avoid saturated fats. Drink enough water daily, so that your urine is mostly colorless. Exercise at least 150 minutes/week and increase the intensity of exercise gradually. Do not use tobacco, alcohol, weed or street drugs in any form.
Practice safe sex, if you have sex. ...Read more

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What is a prothrombin gene mutation? It is something worth worrying about whether you have it or not?

What is a prothrombin gene mutation? It is something worth worrying about whether you have it or not?

PGM: Prothrombin gene mutation is an inherited coagulopathy. This means that if you have this gene mutation, you can be at increased risk of forming clots in certain veins in your body. These clots can be dangerous and even lead to death. We do not routinely check for this mutation but do order this test if a young patient develops a deep blood clot. ...Read more

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Is factor 7 gene mutation (heterozygote) thrombophila?

No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...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


Dr. Steven Ginsberg
1,285 Doctors shared insights

Anemia (Definition)

Any condition where there is a decrease in the red blood ...Read more