What is the prevalence of Fanconi Anemia?
How many people does Fanconi Anemia affect? Does it have the same prevalence in men and women? And in the different countries?
Fanconi Anemia is a rare genetic disorder characterized by bone marrow failure, birth defects, and an increased risk of cancer. It affects individuals of all ethnic groups and both genders. Although it is considered a rare condition, its exact prevalence is difficult to determine due to underdiagnosis and varying rates across different populations. However, estimates suggest that Fanconi Anemia affects approximately 1 in 131,000 to 1 in 322,000 individuals worldwide. Early diagnosis and appropriate management are crucial for improving outcomes and quality of life for those affected.
Fanconi Anemia (FA) is a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer. It is estimated that the prevalence of FA is approximately 1 in 131,000 to 1 in 159,000 individuals worldwide. Although FA affects people of all ethnicities, certain populations, such as Ashkenazi Jews, have a higher incidence of the disorder.
FA is an autosomal recessive disorder, meaning that both parents must carry a mutated gene for their child to be affected. The condition is caused by mutations in any of the 22 known FA genes, which play a crucial role in DNA repair. These mutations lead to impaired DNA repair mechanisms, resulting in the accumulation of genetic damage and increased susceptibility to cancer.
Due to its rarity, FA often goes undiagnosed or misdiagnosed, making it challenging to determine the exact prevalence. Genetic testing and clinical evaluations are essential for accurate diagnosis and appropriate management of FA patients.
Posted Sep 22, 2017 by Barbara 2670
https://www.amazon.es/ANEMIA-FANCONI-EXPERIENCIA-ENFERMEDAD-RARA/dp/1521487286/ref=sr_1_1?ie=UTF8&qid=1500408965&sr=8-1&keywords=anemia+de+fanconi
Posted Jul 18, 2017 by Elisabet 1900
