Question: How many people are affected by Fanconi anemia ?
Answer: Fanconi anemia occurs in 1 in 160,000 individuals worldwide. This condition is more common among people of Ashkenazi Jewish descent, the Roma population of Spain, and black South Africans.
Source: GHR

Question: What are the genetic changes related to Fanconi anemia ?
Answer: Mutations in at least 15 genes can cause Fanconi anemia. Proteins produced from these genes are involved in a cell process known as the FA pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway sends certain proteins to the area of damage, which trigger DNA repair so DNA replication can continue. The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs. Eight proteins associated with Fanconi anemia group together to form a complex known as the FA core complex. The FA core complex activates two proteins, called FANCD2 and FANCI. The activation of these two proteins brings DNA repair proteins to the area of the ICL so the cross-link can be removed and DNA replication can continue. Eighty to 90 percent of cases of Fanconi anemia are due to mutations in one of three genes, FANCA, FANCC, and FANCG. These genes provide instructions for producing components of the FA core complex. Mutations in any of the many genes associated with the FA core complex will cause the complex to be nonfunctional and disrupt the entire FA pathway. As a result, DNA damage is not repaired efficiently and ICLs build up over time. The ICLs stall DNA replication, ultimately resulting in either abnormal cell death due to an inability make new DNA molecules or uncontrolled cell growth due to a lack of DNA repair processes. Cells that divide quickly, such as bone marrow cells and cells of the developing fetus, are particularly affected. The death of these cells results in the decrease in blood cells and the physical abnormalities characteristic of Fanconi anemia. When the buildup of errors in DNA leads to uncontrolled cell growth, affected individuals can develop acute myeloid leukemia or other cancers.
Source: GHR

Question: What are the treatments for Fanconi anemia ?
Answer: These resources address the diagnosis or management of Fanconi anemia: - Cincinnati Children's Hospital: Fanconi Anemia Comprehensive Care Center - Fanconi Anemia Research Fund: Fanconi Anemia Guidelines for Diagnosis and Management - Gene Review: Gene Review: Fanconi Anemia - Genetic Testing Registry: Fanconi anemia - Genetic Testing Registry: Fanconi anemia, complementation group A - Genetic Testing Registry: Fanconi anemia, complementation group B - Genetic Testing Registry: Fanconi anemia, complementation group C - Genetic Testing Registry: Fanconi anemia, complementation group D1 - Genetic Testing Registry: Fanconi anemia, complementation group D2 - Genetic Testing Registry: Fanconi anemia, complementation group E - Genetic Testing Registry: Fanconi anemia, complementation group F - Genetic Testing Registry: Fanconi anemia, complementation group G - Genetic Testing Registry: Fanconi anemia, complementation group I - Genetic Testing Registry: Fanconi anemia, complementation group J - Genetic Testing Registry: Fanconi anemia, complementation group L - Genetic Testing Registry: Fanconi anemia, complementation group M - Genetic Testing Registry: Fanconi anemia, complementation group N - Genetic Testing Registry: Fanconi anemia, complementation group O - Genetic Testing Registry: Fanconi anemia, complementation group P - MedlinePlus Encyclopedia: Fanconi's Anemia - National Cancer Institute: Adult Acute Myeloid Leukemia Treatment PDQ - National Cancer Institute: Myelodysplastic Syndromes Treatment PDQ - National Heart Lung and Blood Institute: How is Fanconi Anemia Treated? - The Rockefeller University: International Fanconi Anemia Registry These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR