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.
M Health Fairview Center For Pediatric Blood And Marrow Transplant And Celluar Therapy
Margaret Macmillan is a Pediatrics specialist and a Pediatric Hematologist Oncology provider practicing medicine in Minneapolis, Minnesota. Dr. Macmillan is rated as an Elite provider by MediFind in the treatment of Fanconi Anemia. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Congenital Aplastic Anemia, Fanconi Anemia, Graft Versus Host Disease (GvHD), Aplastic Anemia, and Bone Marrow Transplant. Dr. Macmillan is currently accepting new patients.
UCI Health Chao Family Comprehensive Cancer Center
Miguel Villalona-Calero is a Hematologist and an Oncologist practicing medicine in Orange, California. Dr. Villalona-Calero is rated as an Elite provider by MediFind in the treatment of Fanconi Anemia. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Fanconi Anemia, Congenital Aplastic Anemia, Lung Cancer, and Aplastic Anemia. Dr. Villalona-Calero is board certified in American Board Of Internal Medicine - Medical Oncology.
Cincinnati Children's Hospital Medical Center
Parinda Mehta is a Hematologist and an Oncologist practicing medicine in Cincinnati, Ohio. Dr. Mehta is rated as an Elite provider by MediFind in the treatment of Fanconi Anemia. She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Congenital Aplastic Anemia, Fanconi Anemia, Aplastic Anemia, Anemia, and Bone Marrow Transplant. Dr. Mehta is currently accepting new patients.
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-...
Background: Fanconi anemia (FA) is an inherited disorder. People with FA are more likely to get certain cancers, especially squamous cell carcinoma (SCC). These cancers usually appear first in the mouth, esophagus, and genital and anal areas. Early detection of SCCs may help improve survival rates for people with FA.
Published Date: March 03, 2025
Published By: National Institutes of Health