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  Oct 15, 2018

Fanconi Anemia Prognosis

Fanconi anemia is a genetic condition that affects DNA repair enzymes and therefore many parts of the body. It is the most common disease among what are referred to as inherited bone marrow failure syndromes (IBMFS).

DNA repair enzymes achieve repair of damaged DNA by removing defective interstrand cross links, which are opposing strands of DNA that are covalently linked and interfere with important cellular processes such as replication and transcription. People with Fanconi anemia may develop bone marrow failure, organ defects and other physical abnormalities. They are also at an increased risk of cancer.

The condition affects around 1 in 350,000 births and is more common among Ashkenazi Jews and Afrikaners. This condition was originally described in 1927 by Swiss pediatrician Guido Fanconi, after whom it is named. Most individuals who develop this condition are diagnosed before the age of 7, but about 10% are diagnosed when they are adults.

Around 90% of people with this condition have impaired bone marrow function, which causes a decrease in the production of all types of blood cells. Usually, the bone marrow produces red blood cells needed for the transport of oxygen, white blood cells required to fight infection