Fanconi Anemia

Question: 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!!!

Answer: 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.

Question: 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

Answer: put it in the yahoo search. I did and came up with a site just for you. you can do it.

Question: How does Fanconi anemia affect the circulatory system? please help me its for school

Answer: Fanconi anemia or FA, is a rare, inherited blood disorder that leads to bone marrow failure. FA causes your bone marrow to stop making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many abnormal blood cells. This can lead to serious health problems such as cancer

Question: 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!!

Answer: Google it like I did, it is rare.

Question: How many people have fanconi anemia? what are the statistics

Answer: 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.

Question: Sickle Cell Anemia vs. Fanconi Anemia? What is the difference between sickle cell anemia and the fanconi anemia? I would be gladif you helped

Answer: Sickle cell anemia is a disorder of hemoglobin. Deoxygenated hemoglobin clumps, causing the cells to assume the sickle shape. The cells can no longer deliver oxygen and can plug vessels. Fanconi anemia is a disorder of a DNA repair enzymes. The bone marrow cells fail, resulting in anemia, but they may also transform to leukemia. The patients may have structural abnormalities of the body: short stature or underdeveloped radius bones or thumbs. Sensitivity to alkylating agents is diagnostic.

Question: can you show me a picture of a punnett square for the genes of fanconi anemia?

Answer: You can find an example on the following website. http://bsc2011-02.sp04.fsu.edu/BIO2.lec7.04.pdf

Question: Inherited Fanconi anemia...autosomal ressive disorder.? It occurs equally in male and female..A couple both without FA who have one child with FA decide to have another child.. what was the genotype of child w/fa & what is the probability for next child.

Answer: A recessive trait only becomes phenotypically apparent when two recessive alleles of a gene are present. In other words, the subject is homozygous for the trait. So each parent has one FA allele and one Normal allele - each parent is heterozygous. The combinations are: FA, FA = FA child chance 1 in 4 N, FA = carrier child chance 2 in 4 FA, N = carrier child chance 2 in 4 N, N = Normal child chance 1 in 4 Hope this helps.

Question: can men have fanconi anemia? can men have this disease?pllzz help me with this..send me links here ,if possible.

Answer: whats fanconi anemia?

Question: Fanconi anemia is an inherited anemia that leads to bone marrow failure ( aplastic anemia).? It is an autosomal recessive disorder. It occurs equally in males and females, and found in all ethnic groups; it can affect all systems of the body, and many patients eventually develop acute myelogenous leukemia at an early age; they also develop a variety of other head, neck, gynecological and or gastrointestinal cancers; the patient can be cured of the FA blood problem by having a successful bone marrow transplant, but must still have regular examinations to watch for signs of cancer. A couple (both with FA) who have already had one child with FA decide that they would like to have another child. a.) What was the genotype of the child with FA? b.) What is the probability that their next child will have FA?

Answer: let the alleles be F for normal allele, and f for the pathological allele. It's autosomal recessive so you need homozygous alleles to have the disease - i.e. " f f" if both parents have FA (which I doubt they do), then they are both ff. The child is ff and any other children are ff because there's no other possibilities. so probability = 1 I suspect the mum and dad are heterzygous for the allele, but check your question. In this case, they are both Ff so the chance of ff is 1/4 and the probability of next child having FA is 1/4

Question: 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.

Answer: Here's a site; http://www.mazornet.com/genetics/fanconi…

Question: can men have fanconi anemia? can men have this disease?pllzz help me with this..send me links here ,if possible.

Answer: Fanconi anemia (FA) is a rare genetic disease that affects children and adults from all ethnic backgrounds. Named for the Swiss pediatrician who originally described this disorder, Guido 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. Contents [hide] 1 Causes 2 Prognosis 3 Hematological Abnormalities 3.1 Myelodysplastic Syndromes 3.2 Acute Myeloid Leukemia 3.3 Bone Marrow Failure 4 Molecular Basis of FA 4.1 Other FA protein interactions 5 See also 6 References 7 External links [edit] Causes FA is primarily an autosomal recessive genetic condition. There are at least 12 genes for which mutations are known to cause FA: A, B, C, D1, D2, E, F, G, I, J, L, and M. FANCB is the one exception to FA being autosomal recessive, as this gene is on the X chromosome. For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition. If both parents are carriers, there is a 25% risk with each pregnancy for the mother to have an affected child. Approximately 1,000 persons worldwide presently suffer from the disease. The carrier frequency in the Ashkenazi Jewish population is about 1/90. Genetic counseling and genetic testing is recommended for families that may be carriers of Fanconi anemia. Because of the failure of the components of the blood - white and red blood cells and platelets - the body cannot successfully combat infection, fatigue, spontaneous hemorrhage or bleeding. Bone marrow transplantation is the accepted treatment to repair the hematological problems associated with FA. However, even with a bone marrow transplant, patients face an increased risk of acquiring cancer and other serious health problems throughout their lifetime. [edit] Prognosis 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). Quality, comprehensive 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. [edit] Hematological Abnormalities Clinically, haematological abnormalities are the most serious symptoms in FA. By the age of 40, 98% of FA will have developed some type of haematologic abnormality. It is interesting to note however the few cases in which older patients have died without ever developing them. Symptoms appear progressively and often lead to complete bone marrow (BM) failure. While at birth blood count is usually normal, macrocytosis/megaloblastic anemia, defined as unusually large red blood cells, is the first detected abnormality, often within the first decade of life (median age of onset is 7 years). Within the next 10 years, over 50% of patients presenting haematological abnormalities will have developed pancytopenia, defined as abnormalities in two or more blood cell lineage. Indeed, thrombocytopenia, defined as platelet count of less than 100x109/L precede neutropenia, defined as a neutrophil count below 1x109/L, both appearing with relative equal frequencies, causing hemorrhage and increases in recurrent infections. As FA is now known to affect the DNA repair and given the current knowledge about dynamic cell division in the BM, it is not surprising to find out that patients are more likely to develop BM failure, myelodysplastic syndromes(MDS) and acute myeloid leukemia (AML). The next sections will detail those pathologies. [edit] Myelodysplastic Syndromes MDS, formerly known as pre-leukemia, are a group of BM neoplastic diseases that share many of the morphologic features of AML with some important differences. First, the percentage of undifferentiated progenitor cells, blasts cells, is always less than 30% and there is considerably more dysplasia, defined as cytoplasmic and nuclear morphologic changes in erythroid, granulocytic and megakaryocytic precursors, than what is usually seen in cases of AML. These changes reflect delayed apoptosis or a failure of programmed cell death. When left untreated, MDS can lead to AML in about 30% of cases. Due the nature of the FA pathology, MDS diagnosis cannot be made solely through cytogenic analysis of the BM. Indeed, it is only when morphologic analysis of BM cells is performed, that a diagnosis of MDS can be ascertained. Upon examination, MDS-afflicted FA patients will show many clonal variations, appearing either prior or subsequent to the MDS. Furthermore, cells will show chromosomal aberrations, the most frequent being monosomy 7 and partial trisomies of chromosome 3q 15. Observation of monosomy 7 within the BM is well correlated with an increased risk of developing AML and with a very poor prognosis, death generally ensuing within 2 years 2. ALSO..................................… Anemia Genetics Site presents detailed information on the genetics of FA, technical data of the ... Donate To Fanconi Anemia Research. Purpose of this Page ...www.members.cox.net/amgough/Fanconi.s… - 15k - Cached - More from this site Fanconi Anemia Research Fund Charity Navigator Awards the Fanconi Anemia Research Fund a Four Star Rating. Nature Genetics Editorial on Fanconi Anemia Research ...www.fanconi.org - 13k - Cached - More from this site Fanconi Anemia Web Fanconi Anemia Web - Fanconi Anemia Web has documented Medical information ... fatal Fanconi Anemia diagnosis totally ... Fanconi Anemia Research Fund,Inc. ...members.tripod.com/fanconianemiaweb - 54k - Cached - More from this site Fanconi Anemia / Family Village Features contact information for the Fanconi Anemia Research Fund. ... growing communication support network of parents and adults with Fanconi Anemia. ...www.familyvillage.wisc.edu/lib_fanc.h… - 6k - Cached - More from this site Fanconi anemia - Wikipedia, the free encyclopedia Fanconi anemia (FA) is a rare genetic disease that affects children and adults ... testing is recommended for families that may be carriers of Fanconi anemia. ...en.wikipedia.org/wiki/Fanconi_anemia - 42k - Cached - More from this site Fanconi Anemia in the Yahoo! Directory Yahoo! reviewed these sites and found them related to Fanconi Anemia ... Directory > Health > Diseases and Conditions > Fanconi Anemia ...dir.yahoo.com/Health/Diseases_and_Con… - 5k - Cached - More from this site Fanconi-Anaemia This is the First UK site dedicated to sufferers of FA. ... for the above Danial Ayling Fanconi Anaemia Trust - the address should be ...www.fanconi-anaemia.co.uk - 14k - Cached - More from this site Fanconi Anemia - Information and Support Resources Fanconi Anemia: Overview, Screening and Testing Information, Support Resources ... This means that people with Fanconi anemia have an unusually high number of ...www.mazornet.com/genetics/fanconi_ane… - 30k - Cached - More from this site MedlinePlus Medical Encyclopedia: Fanconi's anemia ... can cure the blood count problems associated with Fanconi's anemia. ... there has been improvement in the care of Fanconi patients during the transplant. ...www.nlm.nih.gov/medlineplus/ency/arti… - 25k - Cached - More from this site eMedicine - Anemia, Fanconi : Article by Blanche P Alter, MD, MPH In 1927, Guido Fanconi first reported 3 brothers with ... delay, abnormal ears abnormal hearing, Estren Dameshek Fanconi anemia ...www.emedicine.com/ped/topic3022.htm - 102k - Cached - More from this site Shared by Yahoos Answers 1 - 1 of 1 for fanconi anemia can you show me a picture of a punnett square for the genes of ... You can find an example on the following website. http://bsc2011-02.sp04.fsu.edu/BIO2.lec7… Best Answer - Chosen by users More Answers... | Ask a question...SPONSOR RESULTSAdvertise your site here...

Question: What career path should I take? I am interested in genetics and human biology. I am fascinated by transplant surgery such as bone marrow transplants, and I would love to specialize in something like fanconi anemia. However I don't know what A-levels to take or where to go after A-levels. Please help Im so confused!

Answer: Talk to school counselors, or to advisors at colleges in your area.

Question: Would you willingly donate sperm or eggs for in vitro fertilization to produce a healthy child? Would you willingly donate sperm or eggs for in vitro fertilization to produce a healthy child for a couple who could not have one because of the risk of an inherited disease, such as Fanconi's anemia?

Answer: that is actually on my list of things to do for 2009, donate sperm. so the answer is...YES!!

Question: What does a high S-gamma GT result mean? My daughter has Fanconi anemia and uses steroids, her S-gamma Gt has increased, what does this mean to me in ordinary terms?

Answer: GGT has to do with protein synthesis. In terms of steroid use, they increase synthesis. Just a side effect.

Question: What are bp segments? "Levran et al. (1998) reported the occurrence of Alu-mediated genomic deletions in the FACA gene. Two different deletions of 1.2 kb and 1.9 kb were found in patients with Fanconi anemia. Both deletions included exons 16 and 17 and removed a 156-bp segment from the transcript, causing a shorter in-frame message. " What are the "bp-segments" that are talked about? Thank you!! I'll give you best answer as soon as it lets me:)

Answer: base pairs. A segment 156-base pairs was removed.