Fanconi Anemia

Common Name(s)

Fanconi Anemia

Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or X-linked recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Anemia" for support, advocacy or research.

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Canadian Fanconi Anemia Research Fund

Fanconi Canada is a registered charity that funds research in Canada into an effective treatment and, ultimately, a cure for Fanconi anemia and serves as a support network for affected Canadian families.

Last Updated: 24 Nov 2009

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Fanconi Anemia Research Fund, Inc.

Our mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.

Last Updated: 29 Apr 2014

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National Bone Marrow Transplant Link

The mission of the National Bone Marrow Transplant Link is to help patients, caregivers, and families cope with the social and emotional challenges of bone marrow/stem cell transplant from diagnosis through survivorship by providing vital information and personalized support services.

Last Updated: 20 Feb 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Anemia" for support, advocacy or research.

Logo
Canadian Fanconi Anemia Research Fund

Fanconi Canada is a registered charity that funds research in Canada into an effective treatment and, ultimately, a cure for Fanconi anemia and serves as a support network for affected Canadian families.

http://www.fanconicanada.org/en/

Last Updated: 24 Nov 2009

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details
Fanconi Anemia Research Fund, Inc.

Our mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.

http://www.fanconi.org

Last Updated: 29 Apr 2014

View Details
National Bone Marrow Transplant Link

The mission of the National Bone Marrow Transplant Link is to help patients, caregivers, and families cope with the social and emotional challenges of bone marrow/stem cell transplant from diagnosis through survivorship by providing vital information and personalized support services.

http://www.nbmtlink.org

Last Updated: 20 Feb 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fanconi Anemia" returned 532 free, full-text research articles on human participants. First 3 results:

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.
 

Author(s): Kerstin Knies, Shojiro Inano, María J Ramírez, Masamichi Ishiai, Jordi Surrallés, Minoru Takata, Detlev Schindler

Journal: J. Clin. Invest.. 2017 Aug;127(8):3013-3027.

 

The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). An individual presented with ...

Last Updated: 31 Dec 1969

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Impaired immune function in children and adults with Fanconi anemia.
 

Author(s): Kasiani C Myers, Sharon Sauter, Xue Zhang, Jacob J Bleesing, Stella M Davies, Susanne I Wells, Parinda A Mehta, Ashish Kumar, Daniel Marmer, Rebecca Marsh, Darron Brown, Melinda Butsch Kovacic

Journal: Pediatr Blood Cancer. 2017 Nov;64(11):.

 

Fanconi anemia (FA) is a rare genetic disorder characterized by genome instability, bone marrow failure, and cancer predisposition. Previously, small studies have reported heterogeneous immune dysfunction in FA.

Last Updated: 31 Dec 1969

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Fanconi Anemia and Laron Syndrome.
 

Author(s): Inma Castilla-Cortazar, Julieta Rodriguez de Ita, Gabriel Amador Aguirre, Fabiola Castorena-Torres, Jesús Ortiz-Urbina, Mariano García-Magariño, Rocío García de la Garza, Carlos Diaz Olachea, Martha Irma Elizondo Leal

Journal: Am. J. Med. Sci.. 2017 May;353(5):425-432.

 

Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fanconi Anemia" returned 61 free, full-text review articles on human participants. First 3 results:

Aldehyde dehydrogenase 2 in aplastic anemia, Fanconi anemia and hematopoietic stem cells.
 

Author(s): Lauren D Van Wassenhove, Daria Mochly-Rosen, Kenneth I Weinberg

Journal: Mol. Genet. Metab.. 2016 09;119(1-2):28-36.

 

Maintenance of the hematopoietic stem cell (HSC) compartment depends on the ability to metabolize exogenously and endogenously generated toxins, and to repair cellular damage caused by such toxins. Reactive aldehydes have been demonstrated to cause specific genotoxic injury, namely ...

Last Updated: 31 Dec 1969

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[Fanconi anemia animal models - How differences can teach us as much as similarities…].
 

Author(s): Émilie L Dubois, Mariline Béliveau, Jean-Yves Masson

Journal: Med Sci (Paris). ;32(6-7):598-605.

 

Fanconi Anemia is a rare autosomal recessive genetic disease with heterogenous phenotypes including myelosuppression, congenital malformations and heightened cancer predisposition. FA cells are highly sensitive to cross-linking agents. Since the 90's, at least 19 FANC proteins (FANCA ...

Last Updated: 31 Dec 1969

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Fanconi Anemia: A DNA repair disorder characterized by accelerated decline of the hematopoietic stem cell compartment and other features of aging.
 

Author(s): Robert M Brosh, Marina Bellani, Yie Liu, Michael M Seidman

Journal: Ageing Res. Rev.. 2017 Jan;33():67-75.

 

Fanconi Anemia (FA) is a rare autosomal genetic disorder characterized by progressive bone marrow failure (BMF), endocrine dysfunction, cancer, and other clinical features commonly associated with normal aging. The anemia stems directly from an accelerated decline of the hematopoietic ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pilot Study of Metformin for Patients With Fanconi Anemia
 

Status: Not yet recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 11 Jan 2018

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FANC-A Gene Transfer for Fanconi Anemia Using a Self-inactivating Lentiviral Vector
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 20 Nov 2017

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Quercetin in Children With Fanconi Anemia; a Pilot Study
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 1 Dec 2017

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