Fanconi anemia

Fanconi anemia group c is one of several conditions collectively referred to as Fanconi anemia. In order to distinguish this subtype from the others, Fanconi anemia group c is also referred to as "FANCC-Related Fanconi anemia" or "Fanconi anemia, Complementation group C". Both of these names refer to the particular cause of this subtype of Fanconi anemia, mutations in the FANCC gene.

Fanconi anemia group c is caused by mutations in the FANCC gene, which is located on chromosome 9. This means that the gene is autosomal and this condition is inherited in an autosomal recessive way.

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Currently, five clinical trials are identified as enrolling individuals with Fanconi anemia. These trials are not specific to Fanconi anemia group c, but to all types of Fanconi anemia. To find these trials, click on the link below.
https://clinicaltrials.gov/ct2/results?term=fanconi+anemia+c&recr=Open

We recommend that you disucss this question with your healthcare provider directly.

Because this condition is inherited in an autosomal recessive way, it is expected to affect men and women equally.

There are a number of long-term health risks associated with hematopoietic stem cell transplantation (HCT). Specific risks vary depending on a variety of factors, including age, gender, type of pre-transplant therapy, donor type, reason for HCT, and if the person experienced early complications (e.g., graft-versus-host disease or infections). Examples of HCT related health risks include, blood cancer, solid tumors, heart disease, infection, lung toxicity, and chroinc graft-versus-host-disease.

HCT related risks appear to be higher in people with Fanconi anemia. Fanconi anemia makes the body especially sensitive to radiation and chemotherapy. The Fanconi Anemia Rearch Fund, Inc offer the Fanconi Anemia: A Handbook for Families and their Physicians (Third Edition, 2000) which provides detailed information on Fanconi anemia, including bone marrow transplantation.

Yes. It is not uncommon for people with Fanconi anemia to have short stature. Also, allogenic hematopoietic cell transplantation (HCT) and total body irradiation can affect final height in transplanted children, particularly when the transplant is preformed prior to the age of five. Allogeneic HCT may also cause a decrease in lean body mass and a decline in body mass index after transplant.

Allogeneic hematopoietic stem cell transplantation (HCT), a type of bone marrow transplant, has long been the primary treatment method for correcting the blood defects associated with Fanconi anemia. In general, it has been estimated that five-year survivors of HCT may have a normal to near normal life expectancy, however Fanconi anemia is a risk factor that negatively impacts survival rates. One study estimated a 58 percent 30-years survival rate for one-year survivors of HCT with Fanconi anemia.

Tolar J, Adair JE, Antoniou M, Bartholomae CC, Becker PS, Blazar BR, Bueren J, Carroll T, Cavazzana-Calvo M, Clapp DW, Dalgleish R, Galy A, Gaspar HB, Hanenberg H, Von Kalle C, Kiem HP, Lindeman D, Naldini L, Navarro S, Renella R, Rio P, Sevilla J, Schmidt M, Verhoeyen E, Wagner JE, Williams DA, Thrasher AJ. Stem cell gene therapy for fanconi anemia: report from the 1st international Fanconi anemia gene therapy working group meeting. Mol Ther. 2011 Jul;19(7):1193-8.