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

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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.

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

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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 516 free, full-text research articles on human participants. First 3 results:

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: 15 May 2017

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Allosteric Targeting of the Fanconi Anemia Ubiquitin-Conjugating Enzyme Ube2T by Fragment Screening.
 

Author(s): Francesca E Morreale, Alessio Bortoluzzi, Viduth K Chaugule, Connor Arkinson, Helen Walden, Alessio Ciulli

Journal: J. Med. Chem.. 2017 May;60(9):4093-4098.

 

Ube2T is the E2 ubiquitin-conjugating enzyme of the Fanconi anemia DNA repair pathway and it is overexpressed in several cancers, representing an attractive target for the development of inhibitors. Despite the extensive efforts in targeting the ubiquitin system, very few E2 binders ...

Last Updated: 24 Apr 2017

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[Association between clinical outcome and gene mutation in children with Fanconi anemia].
 

Author(s): Li-Xian Chang, Ruan-Ruan Ren, Wen-Yu Yang, Jia-Yuan Zhang, Yang Wan, Tian-Feng Liu, Li Zhang, Xiao-Juan Chen, Shuai Zhu, Min Ruan, Xia Chen, Xiao-Ming Liu, Ben-Quan Qi, Ran-Ran Zhang, Yao Zou, Yu-Mei Chen, Xiao-Fan Zhu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2016 Aug;18(8):742-5.

 

To investigate the association between clinical outcome and gene mutations in children with Fanconi anemia (FA).

Last Updated: 17 Aug 2016

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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 56 free, full-text review articles on human participants. First 3 results:

[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: 13 Jul 2016

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Fanconi anemia proteins in telomere maintenance.
 

Author(s): Jaya Sarkar, Yie Liu

Journal: DNA Repair (Amst.). 2016 Jul;43():107-12.

 

Mammalian chromosome ends are protected by nucleoprotein structures called telomeres. Telomeres ensure genome stability by preventing chromosome termini from being recognized as DNA damage. Telomere length homeostasis is inevitable for telomere maintenance because critical shortening ...

Last Updated: 22 Jun 2016

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Interplay between Fanconi anemia and homologous recombination pathways in genome integrity.
 

Author(s): Johanna Michl, Jutta Zimmer, Madalena Tarsounas

Journal: EMBO J.. 2016 May;35(9):909-23.

 

The Fanconi anemia (FA) pathway plays a central role in the repair of DNA interstrand crosslinks (ICLs) and regulates cellular responses to replication stress. Homologous recombination (HR), the error-free pathway for double-strand break (DSB) repair, is required during physiological ...

Last Updated: 4 May 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 17 Feb 2017

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Last Updated: 28 Mar 2017

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Quercetin in Children With Fanconi Anemia; a Pilot Study
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 5 Jul 2017

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