Fanconi Anemia (FA) Bone Marrow Failure - 802 Words

Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that generally leads to bone marrow failure. While it is rare, only effecting less than 2% of the worlds population is more commonly seen in South Africa. It is named after the Swiss pediatrician who first published information after clinical observations in 1927. FA is the result of a genetic defect in a cluster of proteins responsible for the DNA repair. As a result, the majority of FA patients develop cancer, most often acute myelogenous leukemia and around 90% develop bone marrow failure by the age of 40. About 60–75% of FA patients are plagued with congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Also around 75% of FA patients have some form of endocrine problem, with varying degrees of severity. Life expectancy for someone with Fanconis Anemia is approximately 22 years. Fanconi anemia is thought to originate from a colony in South Africa. FA is primarily an autosomal recessive genetic disorder, which means that two mutated alleles (one from each parent) are required to cause the disease . There is a 25% risk that each subsequent child will have FA. About 2% of FA cases are X-linked recessive, which means that if the mother carries one mutated Fanconi anemia allele there is a 50% chance that male offspring will present with Fanconi anemia. Fanconi anemia was first described by Guido Fanconi.Show MoreRelatedA Study On Alyscia And Devon Essay1131 Words   |  5 Pagesof moderate to heavy physical exertion. Upon physical examination the boy presented with an enlarged spleen. Pre-screening indicates signs of sickle cell anemia (SCA). Patient’s mother reports no family history; however, paternal aunt passed away at an early age. Ask What are the screen types for SCA, as well as, the other types of genetic anemias and how to differentiate between them? Access This article covers the insights into HbF gene regulation. HbF appears to benefit some complications of