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Topic: Fanconi anemia


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In the News (Thu 20 Jun 19)

  
  AllRefer Health - Fanconi's Anemia (Anemia - Fanconi's, FA)
Fanconi's anemia is an inherited disease that primarily affects the bone marrow, resulting in decreased production of all types of blood cells.
Fanconi's anemia is distinct from Fanconi's syndrome, a rare kidney disorder in which nutrients are lost through the urine.
Fanconi's anemia is inherited in an autosomal recessive fashion, thus one copy of an abnormal gene is passed on by each parent.
health.allrefer.com /health/fanconis-anemia-info.html   (402 words)

  
  Fanconi anemia - Wikipedia, the free encyclopedia
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.
In addition, Fanconi patients normally are born with a variety of birth defects.
en.wikipedia.org /wiki/Fanconi_anemia   (411 words)

  
 Fanconi's anemia
Fanconi's anemia is an inherited disease that primarily affects the bone marrow, resulting in decreased production of all types of blood cells.
Fanconi's anemia is distinct from Fanconi's syndrome, a rare kidney disorder in which nutrients are lost through the urine.
Fanconi's anemia is inherited in an autosomal recessive fashion, thus one copy of an abnormal gene is passed on by each parent.
www.umm.edu /ency/article/000334.htm   (251 words)

  
 Reference.com/Encyclopedia/Fanconi anemia
Fanconi anemia (FA) is a 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.
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).
www.reference.com /browse/wiki/Fanconi_anemia   (2595 words)

  
 Genetic Diseases: Fanconi Anemia
Fanconi anemia is a blood disorder characterized by pancytopenia (deficiency of red blood cells, white blood cells and platelets), increased risk for cancer, and congenital birth defects.
Although five subtypes of Fanconi Anemia exist, it is only Type C that occurs with increased frequency among individuals with Ashkenazi Jewish ancestry.
In the past, a diagnosis of Fanconi anemia was based on clinical observation and the results of laboratory studies.
www.ujc.org /content_display.html?ArticleID=81091   (378 words)

  
 Scientists Find Clues in Fanconi Anemia   (Site not responding. Last check: 2007-11-04)
The discovery of two new genes that cause Fanconi anemia suggest the rare disease is linked to a DNA repair system that normally keeps people healthy, according to a new study.
Fanconi anemia is very uncommon, affecting perhaps 500 people nationally, including several Oregon families — most notably the family of University of Oregon President Dave Frohnmayer.
Because Fanconi patients commonly have problems with both strands of DNA breaking, scientists long thought a flaw in a system to repair those breaks caused the illness.
www.sfgate.com /cgi-bin/article.cgi?f=/n/a/2005/09/15/national/a173757D66.DTL&type=health   (651 words)

  
 Fanconi Anemia Genetics
Fanconi Anemia is a very rare, inherited genetic disease that causes severe, life-threatening aplastic anemia--which means a deficiency of all types of blood cells.
Blood counts are normal at birth, but aplastic anemia develops insidiously and presents in most cases between 5 and 10 years of age; however, in some cases, it presents in adolescence or even in adult life.
Fanconi Anemia Research Fund (FARF), Inc - the research fund that has funded much of the research that has lead to a dramatic increase in the understanding of the causes of Fanconi Anemia and improved treatment options.
www.members.cox.net /amgough/Fanconi.shtml   (1559 words)

  
 Fanconi Anemia - Diseases and Conditions - Blood and Marrow Transplant
The Fanconi Anemia Comprehensive Care Program at University of Minnesota Medical Center, Fairview is the single largest treatment center for patients with Fanconi Anemia (FA) in the United States.  The care provided is individually tailored to meet the unique needs of each patient and family.
Fanconi Anemia is a rare, inherited disease which causes bone marrow failure.
Patients with Fanconi Anemia need to have a bone marrow test at least once a year to monitor for the development of myelodysplastic syndrome (MDS), leukemia or clonal cytogenetic abnormalities.
www.fairviewbmt.org /Diseases_and_Conditions/c_098205.asp   (878 words)

  
 Fanconi Anemia - Information and Support Resources
Fanconi anemia is an inherited condition characterized by reduced production of all types of blood cells in the body.
Fanconi anemia usually reveals itself when children are between the ages of 3-12 years but in rare cases symptoms do not appear until adulthood.
Transplants should be performed in centers with experience with Fanconi anemia, as the needs of the FA patient are vastly different than those with other bone marrow failure problems.
www.mazornet.com /genetics/fanconi_anemia.asp   (640 words)

  
 Center for Jewish Genetic Diseases - Department of Genetics and Genomic Sciences - Mount Sinai School of Medicine
anconi anemia is a blood disorder characterized by pancytopenia (deficiency of red blood cells, white blood cells and platelets), increased risk for cancer, and congenital birth defects.
It is estimated that approximately 1 in 89 Ashkenazi Jewish individuals are carriers of Type C. All types of Fanconi anemia are inherited in an autosomal recessive manner.
Carriers of Fanconi anemia cannot be reliably identified by chromosome breakage studies, and it was not until recently, when the gene for Fanconi anemia was isolated on chromosome 9, that identification of Fanconi anemia carriers became possible.
www.mssm.edu /jewish_genetics/diseases/fanconi_anemia.shtml   (387 words)

  
 Fanconi Anemia   (Site not responding. Last check: 2007-11-04)
When Jake Shearer was diagnosed with Fanconi anemia three years ago, his family had never heard of the rare disease.
The damage from Fanconi anemia typically causes cancer and early death.
An extract from the eggs of the African clawed frog suggest that Fanconi anemia results from a genetic defect in the ability to repair DNA damage during...
www.wikiverse.org /fanconi-anemia   (413 words)

  
 ACS :: What Is Aplastic Anemia?
Aplastic anemia is not a type of cancer but may be associated with certain cancers (especially those affecting the bone marrow, such as leukemias) or cancer treatments.
About half of patients with Fanconi anemia have other congenital problems such as growth retardation, a small head, no thumbs, dark spots on the skin, and lack 1 of the 2 bones in the forearm.
In most cases, the aplastic anemia is thought to be caused by a person’s reaction to being exposed to a drug, chemical, or virus.
www.cancer.org /docroot/CRI/content/CRI_2_4_1x_What_Is_Aplastic_Anemia.asp?sitearea=CRI&viewmode=print&   (533 words)

  
 Fanconi anaemia
Karyotype evolution in the bone marrow of a patient with Fanconi anemia: breakpoints in clonal anomalies of this disease.
Molecular biology of Fanconi anemia: implications for diagnosis and therapy.
Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner.
www.infobiogen.fr /services/chromcancer/Kprones/FA10001.html   (1055 words)

  
 Clawed Frog Helps Fanconi Anemia Research Make Leaps
Fanconi anemia is thought to be the result of a defect in the Fanconi genes' ability to repair DNA damage.
For example, the Fanconi proteins were drawn to the DNA once the copying process began.
The study was funded by the Fanconi Anemia Research Fund, the Medical Research Foundation of Oregon, the National Institutes of Health and the American Heart Association.
www.ohsu.edu /ohsuedu/newspub/releases/012406frogs.cfm   (884 words)

  
 Fanconi Anemia   (Site not responding. Last check: 2007-11-04)
Background: Fanconi anemia (FA) is the most frequently reported of the rare inherited bone marrow failure syndromes, with more than 1200 cases reported in the medical literature.
Supportive care for symptomatic anemia includes transfusions of packed red blood cells that have been leukodepleted (and are not from family members, to avoid sensitization in case of a future transplantation).
The diagnosis of FA must be made to avoid the inappropriate use of immunosuppressive therapy for aplastic anemia, the use of toxic levels of chemotherapy in leukemia, or toxic types of preparation for a stem cell transplantation.
medical-genetics.com /fanconi_anemia.htm   (4419 words)

  
 About Fanconi Anemia
Fanconi Anemia (FA), named for Swiss pediatrician, Guido Fanconi, is one of the inherited anemia's that leads to bone marrow failure (aplastic anemia).
Fanconi anemia patients are usually smaller than average.
While the total number of FA patients is not documented worldwide, scientists estimate that the carrier frequency (carriers are people carrying a defect in an FA gene, whose matching FA gene is normal) for FA is somewhere between 1 in 600 and 1 in 100.
www.kapsforkendall.com /about-fanconi-anemia.htm   (582 words)

  
 New research uncovers cancer gene --- HealthandAge   (Site not responding. Last check: 2007-11-04)
In a related study, mutations in PALB2 have been shown to be linked to Fanconi anemia in children.
The team studied a group of 82 children with Fanconi anemia who did not have mutations in any of the eleven genes already known to be linked to the condition.
Fanconi's anemia is linked to a very high risk of childhood cancer.
www.healthandage.com /public/news/10302/New-research-uncovers-cancer-gene.html   (217 words)

  
 Fanconi anemia definition - Medical Dictionary definitions of popular medical terms   (Site not responding. Last check: 2007-11-04)
Fanconi anemia: A genetic disease that affects all of the bone marrow elements, is associated with a great diversity of malformations as well as pigmentary changes of the skin, and predisposes to malignancy.
Malignancy: Fanconi anemia predisposes particularly to a disturbance of bone marrow growth called myelodysplasia and to acute myeloid leukemia.
However, the genetics of Fanconi anemia are complicated by the fact that there are at least seven different Fanconi anemia genes: A, C, D2, E, F, G and BRAC2.
www.medterms.com /script/main/art.asp?articlekey=9616   (743 words)

  
 Newswise |
Fanconi anemia is caused by a mutation in any of six genes in human cells.
As a test, he gave a sample of breast cancer cells to a specialist in cell genetics and, without telling her what type of cell they were, asked her to analyze them for chromosomal abnormalities.
Now that the link between mutations for Fanconi anemia and breast cancer has been established, doctors may soon be able to offer new tests for determining who is at risk for inherited breast cancer, and potentially develop new drugs targeted at specific, flawed genes.
www.newswise.com /articles/view/?id=fagene.dfc   (1111 words)

  
 New gene associated with Fanconi anemia 'explains' hallmark chromosomal instability
Fanconi anemia (FA) is an inherited disorder characterized by developmental abnormalities, life-threatening bone-marrow failure, and predisposition to a variety of cancers.
One reason for this hypothesis is that some already identified Fanconi anemia proteins accumulated in the nuclei of normal cells along with protein produced by the gene BRCA1, which is believed to help maintain DNA stability, but when mutated, is the major breast cancer susceptibility protein.
But Auerbach and her team of researchers were puzzled that about 20 patients in the 1,000-plus International Fanconi Anemia Registry (IFAR) had no mutations in any of the genes known to be associated with the disease, yet there was no question they had Fanconi anemia.
www.medicalnewstoday.com /medicalnews.php?newsid=29485   (1242 words)

  
 Fanconi Anemia   (Site not responding. Last check: 2007-11-04)
Fanconi Anemia (FA), first described in 1927 by a Swiss pediatrician Guido Fanconi, is the most common of the inherited anemias that lead to progressive, severe bone marrow failure, also known as aplastic anemia.
The effects of the disease are devastating, leaving patients weak, prone to severe bleeding due to insufficient blood clotting and susceptible to infection.
A Fanconi Anemia patient often, but not always, has other physical defects detectable at the time of birth ranging from minor to serious.
www.fanconicanada.org /sys-tmpl/fanconianemia   (411 words)

  
 HSC: News Releases
Fanconi Anemia (FA) is an inherited disease characterized by bone marrow failure, congenital malformations, and a high susceptibility to leukemia.
Fanconi Canada is a registered charity whose mission is to fund research in Canada into an effective treatment and, ultimately, a cure for Fanconi Anemia and to serve as a support network for affected Canadian families.
Fanconi Canada recently partnered with the Canadian Institutes of Health Research to fund a postdoctoral fellowship dedicated to Fanconi Anemia research.
www.sickkids.on.ca /releases/fanconianemia.asp   (579 words)

  
 ¿ QUE ES LA ANEMIA DE FANCONI ?
La anemia de Fanconi es una grave enfermedad que fue descubierta en el año 1927 por un pediatra suizo llamado Guido Fanconi.
Esta enfermedad se manifiesta principalmente en niños a través de anemias y episodios infecciosos y hemorrágicos que suelen ser persistentes y severos.
Anemia: Puesto que los glóbulos rojos son los encargados del transporte de oxígeno, el déficit de estas células conlleva a una disminución en la cantidad de oxígeno que llega a los tejidos.
www.asoc-anemiafanconi.es /quees.html   (3859 words)

  
 vgn-ext-hidden_Abstract   (Site not responding. Last check: 2007-11-04)
Fanconi anemia (FA) is an autosomal recessive disease characterized by high degrees of genomic instability and a predisposition to cancer.
The International Fanconi Anemia Registry (IFAR), a prospectively collected database of FA patients, allows us the unique opportunity to analyze the incidence, the distribution of tumor types, and the risk of SCC development in a large series of patients over a 20-year period.
Fanconi anemia and its association with squamous cell carcinoma: a model for carcinogenesis
www.asco.org /portal/site/ASCO/menuitem.34d60f5624ba07fd506fe310ee37a01d/?vgnextoid=76f8201eb61a7010VgnVCM100000ed730ad1RCRD&vmview=abst_detail_view&confID=16&abstractID=927   (726 words)

  
 MEdIC - Aplastic Anemia - Introduction for the General Physician   (Site not responding. Last check: 2007-11-04)
Aplastic anemia is a hematologic disorder characterized by a decrease in the cellular elements of the peripheral blood.
Aplastic anemia develops before age 30-40 in patients who are predisposed due to a congenital chromosomal abnormality such as Fanconi's anemia or dyskeratosis congenita.
Patients with aplastic anemia generally present with symptoms of bleeding or bruising due to the thrombocytopenia (low platelets), tiredness or pallor due to the anemia (low hemoglobin), or infection due to the neutropenia (low white blood cell count).
medic.med.uth.tmc.edu /ptnt/00001040.htm   (1303 words)

  
 Anemia, Fanconi's
Fanconi anemia, also known as aplastic anemia with congenital anomalies, is a rare genetic disorder that may be apparent at birth or during childhood.
Fanconi anemia may also be associated with heart (cardiac), kidney (renal), and/or skeletal abnormalities.
Fanconi anemia is not related in any way to Fanconi syndrome, a rare kidney disorder.
www.bchealthguide.org /kbase/nord/nord84.htm   (483 words)

  
 CiteULike: A role for the Fanconi anemia C protein in maintaining the DNA damage-induced G2 checkpoint.   (Site not responding. Last check: 2007-11-04)
A role for the Fanconi anemia C protein in maintaining the DNA damage-induced G2 checkpoint.
Fanconi anemia (FA) is a complex, heterogeneous genetic disorder composed of at least 11 complementation groups.
Here we show that the Fanconi anemia complementation group C protein (Fancc) is necessary for proper function of the DNA damage-induced G2/M checkpoint in vitro and in vivo.
www.citeulike.org /user/DNAReplication/article/767764   (588 words)

  
 Open Directory - Health: Conditions and Diseases: Blood Disorders: Anemia: Fanconi   (Site not responding. Last check: 2007-11-04)
Fanconi Anemia - Discusses the genetics of this condition and treatment options.
Fanconi Anemia Research Fund - To find effective treatments and a cure for this disease, and to provide education and support services to affected families worldwide.
Fanconi Canada - Canadian charity whose mission is to fund medical research into finding a cure for Fanconi Anemia and to serve as a support network for affected Canadian families.
www.dmoz.org /Health/Conditions_and_Diseases/Blood_Disorders/Anemia/Fanconi   (372 words)

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