Fanconi anemia

People who have Fanconi anemia (FA) are born with the disorder. They may or may not show signs or symptoms of it at birth. For this reason, FA isn't always diagnosed when a person is born. In fact, most people who have the disorder are diagnosed between the ages of 2 and 15 years. The tests used to diagnose FA depend on a person's age and symptoms. In all cases, medical and family histories are an important part of diagnosing FA. However, because FA has many of the same signs and symptoms as other diseases, only genetic testing can confirm its diagnosis. Specialists Involved A geneticist is a doctor or scientist who studies how genes work and how diseases and traits are passed from parents to children through genes. Geneticists do genetic testing for FA. They also can provide counseling about how FA is inherited and the types of prenatal (before birth) testing used to diagnose it. An obstetrician may detect birth defects linked to FA before your child is born. An obstetrician is a doctor who specializes in providing care for pregnant women. After your child is born, a pediatrician also can help find out whether your child has FA. A pediatrician is a doctor who specializes in treating children and teens. A hematologist (blood disease specialist) also may help diagnose FA. Family and Medical Histories FA is an inherited disease. Some parents are aware that their family has a medical history of FA, even if they don't have the disease. Other parents, especially if they're FA c...

About Fanconi Anemia Rare. Complex. Genetic. Learn more about the FA diagnosis and disease itself. If you’ve just received an FA diagnosis and have come across this website, you’ve come to the right place. We’re here to help you understand the diagnosis and what it means to live with FA. How is FA treated? Because it’s a disease that affects multiple systems of the body, there is no single answer to this question. Also, the type and severity of FA symptoms vary from person to person. People with FA have a much greater risk of developing leukemia and other cancers than people without FA. That’s why FARF is funding research to better understand this connection, to detect and prevent cancers, and to find treatments. New treatments and therapies for people with FA are not possible without research. There are many clinical trials and research opportunities available for people with FA. We encourage patients and families to consider participation. Get Involved Help raise money to support our research You know that warm, fuzzy feeling you get when you’ve done something important and good? We thrive on that. We also count on it: almost all of our funding is the result of individual donations and fundraising efforts. Whether it’s donating, creating your own fundraiser or supporting another, every single effort counts. How will you make a difference today?

While we provide exceptional traditional treatments for Fanconi anemia (FA), including comprehensive disease monitoring, growth factor therapies, blood transfusions, and stem cell transplants, we are especially proud to also offer leading-edge and novel investigational treatments for FA. Unique research-driven treatments Personalized diagnostics and decision making We are one of a few programs in the nation to conduct diagnostic testing to understand the complete genetic cause of FA in your child, and we additionally encourage detailed testing to understand the full extent of disease in your child’s blood and bone marrow. This information can then be used to tailor our treatments specific to your child, homing in on exactly what care your child needs at each step throughout his or her medical journey. Gene therapy If your child has subtype A (FA-A), we offer an investigative treatment that is intended to reverse the root cause of the blood disorders associated with FA by placing an intact normal copy of the FANCAgene (the gene that causes FA in a majority of patients) inside the blood stem cells. The goal of the gene therapy is to enable the corrected blood stem cells to grow normally, thereby avoiding or delaying bone marrow failure your child. We have obtained promising results in both our New oral medicines We are studying the investigational use of alternative oral medicines with the hope of improving the performance of the blood cells and preventing cancer. For exampl...

Article: • • • • • • • Images: • Terminology Fanconi anemia should not be confused with Epidemiology The estimated incidence is ~1:35,000 births. There may be a higher frequency in Ashkenazi Jews and Afrikaners in South Africa. There might also be a slight male predilection. Associations • 6 • endocrine abnormalities • • short stature • growth hormone deficiency 10 • hepatic tumors 12 • squamous cell carcinomas • esophagus • vulva • oropharynx 12 Pathology Genetics It is mostly transmitted by autosomal recessive inheritance (>99%). Classification At least 13 genetic subtypes are described: • type a • type b • type c • type d1 • type d2 • type e • type f • type g • type i • type j • type l • type m • type n Radiographic features Although non-specific, commonly described features include: • • • • • Treatment and prognosis The main cause of mortality is from marrow failure. Treatments include transfusion of blood products and bone marrow transplants. As most cases are inherited, genetic counseling is important. History and etymology First described by a Swiss pediatrician, Guido Fanconi (1892-1979), in 1927 8,9. • 8. Lobitz S, Velleuer E. Guido Fanconi (1892-1979): a jack of all trades. (2006) Nature reviews. Cancer. 6 (11): 893-8. • 9. Fanconi G. Familiäre infantile perniziosaartige Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung (Wien) 1927;117: 257–280. • 10. Giri N, Batista DL, Alter BP, Stratakis CA. Endocrine abnormal...

What is Fanconi anemia? Fanconi anemia is a rare and serious inherited blood disorder that leads to bone marrow failure. It prevents bone marrow from making enough new blood cells for the body to work properly. Fanconi anemia can also cause bone marrow to make faulty blood cells. This can lead to serious health problems such as leukemia, a type of blood cancer. Fanconi anemia is a type of aplastic anemia — a condition that causes the blood to have a lower than normal number of blood cells. In Fanconi anemia, the bone marrow does not make enough or stops making all three types of blood cells—red blood cells (to carry oxygen), white blood cells (to fight infection) and platelets (to help blood clot). Although Fanconi anemia is a blood disorder, it can also affect many of the body’s other organs, tissues and systems. Children who inherit Fanconi anemia are at higher risk for birth defects and for developing certain cancers and other serious health conditions. Fanconi anemia is different than Fanconi syndrome, a condition that affects the kidneys. How common is Fanconi anemia? Fanconi anemia mostly affects children. In the United States, the likelihood of a child being born with Fanconi anemia is about one in 130,000 births. About 31 babies are born with the disease each year. About one in every 181 people in the United States is a carrier of Fanconi anemia. Fanconi anemia occurs in all racial and ethnic groups and affects males and females equally. Two ethnic groups—Ashkenazi...

• Café au lait spots (light-brown birthmarks) • Short stature • Thumb and arm abnormalities (missing, misshapen, or extra thumbs or an incompletely developed/missing forearm bone) • Low birth weight • Small head or eyes • Abnormalities of the kidneys, genitals, gastrointestinal tract, heart, and central nervous system • Curved spine ( scoliosis) • Deafness • Internal bleeding • Congenital (at birth) heart defects Causes and Risk Factors Fanconi anemia (FA) is a hereditary condition that is passed down from generation to generation Although the exact cause of FA is unclear, defects in at least 18 genes that provide instructions to help the body repair certain types of DNA damage have been linked to the disease. Most cases are considered autosomal recessive, which means a child must receive two copies of the mutated gene—one from each biological parent—to have the disorder. People with one mutated gene will be a carrier (able to pass the mutated gene on to their children) but usually won't develop symptoms. • Thumb and arm anomalies, such as an extra or misshaped or missing thumbs and fingers or an incompletely developed or missing radius (one of the forearm bones) • Skeletal anomalies of the hips, spine, or ribs • Structural kidney defects or absent kidneys • Small reproductive organs in males • Defects in tissues separating the heart Treatment is also geared toward managing your symptoms, which may require the input of multiple specialists, including pediatricians, surgeon...