Fanconi AnemiaSymptoms, Doctors, Treatments, Advances & More
Learn About Fanconi Anemia
View Main Condition: Anemia
Fanconi anemia is a condition that is characterized by bone marrow failure, physical differences, organ problems, and an increased risk of certain cancers.
Variants (also called mutations) in more than 20 genes can cause Fanconi anemia. The proteins produced from these genes are involved in a process known as the Fanconi anemia (FA) pathway. The FA pathway turns on (activates) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway triggers DNA repair so DNA replication can continue.
Fanconi anemia occurs in 1 in 100,000 to 160,000 individuals worldwide. The condition is more common among certain populations, including people of Ashkenazi Jewish descent, the Roma population of Spain, the Afrikaner population of South Africa, and the Japanese population.
Fanconi anemia is typically inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
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Stella Davies is a Hematologist and an Oncologist in Cincinnati, Ohio. Dr. Davies is rated as an Elite provider by MediFind in the treatment of Fanconi Anemia. Her top areas of expertise are Congenital Aplastic Anemia, Fanconi Anemia, Shwachman-Diamond Syndrome, Bone Marrow Transplant, and Bone Graft.
Vince Lombardi Cancer Clinic
Timothy Goggins is a Hematologist and an Oncologist in Germantown, Wisconsin. Dr. Goggins is rated as an Advanced provider by MediFind in the treatment of Fanconi Anemia. His top areas of expertise are Non-Hodgkin Lymphoma, Colorectal Cancer, Familial Colorectal Cancer, and Testicular Yolk Sac Tumor.
Cincinnati Children's Hospital Medical Center
Parinda Mehta is a Hematologist and an Oncologist in Cincinnati, Ohio. Dr. Mehta is rated as an Elite provider by MediFind in the treatment of Fanconi Anemia. Her top areas of expertise are Congenital Aplastic Anemia, Fanconi Anemia, Aplastic Anemia, Anemia, and Bone Marrow Transplant.
Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-...
Published Date: March 03, 2025
Published By: National Institutes of Health