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.
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Stella Davies is a Hematologist and an Oncologist practicing medicine in Cincinnati, Ohio. Dr. Davies is rated as an Elite provider by MediFind in the treatment of Fanconi Anemia. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Congenital Aplastic Anemia, Fanconi Anemia, Shwachman-Diamond Syndrome, Bone Marrow Transplant, and Bone Graft.
UCI Health Chao Family Comprehensive Cancer Center
Dr. Miguel A. Villalona-Calero is a UCI Health medical oncologist who specializes in lung cancer, early phase clinical trials, the use of genomic-driven therapies and immune system treatments to target cancer.An internationally regarded expert in lung cancer and developmental therapeutics, Villalona-Calero serves as deputy director of the UCI Health Chao Family Comprehensive cancer center. As chief of the UC Irvine School of Medicine's Division of Hematology-Oncology, he leads a faculty of more than 70 hematologists and oncologists, including nationally know specialists in many types of cancer.He earned his medical degree from Universidad Nacional Pedro Henriquez Urena in the Dominican Republic, followed by an internship and internal medicine residency at Kings County Hospital Center and the State University of New York Health Science Center in Brooklyn. He completed fellowships in medical oncology at the University of Minnesota Hospitals & Clinics in Minneapolis and the Roswell Park Cancer Institute in Buffalo, N.Y.He also received fellowship training at the University of Texas’ Institute for Drug Development in San Antonio and in health policy leadership at New York University’s Wagner Graduate School of Public Service in New York City. Before joining UCI Health, he served as director of an early phase therapeutics program at City of Hope in Duarte, Calif.Villalona-Calero is widely known for his work in lung cancer and developmental therapeutics, including the design of more effective anticancer agents. His main area of expertise is in translating laboratory science developments into clinical trials for cancer patients. Most recently, his focus has been on targeting cellular deficiencies in DNA repair and finding new ways to use the immune system to attack cancer cells.The author or co-author of more than 140 peer-reviewed publications, Villalona-Calero has been inducted into the American Association for the Advancement of Science and is a fellow of the American College of Physicians. He has led dozens of clinical trials, including early phase studies funded by the National Cancer Institute (NCI) and the National Institutes of Health (NIH). He currently leads a phase 1 clinical trial for non-small cell lung cancer using enhanced natural killer cells, part of a prestigious NCI and NIH R01 grant for developmental cell therapeutics.Villalona, who is fluent in English and Spanish, sees patients inIrvineandOrange. Dr. Villalona 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 Non-Small Cell Lung Cancer (NSCLC). Dr. Villalona is board certified in American Board Of Internal Medicine - Medical Oncology.
Background: Fanconi anemia (FA) is a rare, inherited cancer syndrome. FA causes a range of physical issues. Children with FA may have abnormal features; these may include a small head and eyes and issues with their internal organs. Young adults have a much higher risk of cancer. To screen for these cancers, people with FA may need to pursue many visits with different doctors. This constant need for cancer scr...
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...
Published Date: March 03, 2025
Published By: National Institutes of Health