Fanconi Anemia Research Paper

Fanconi Anemia mainly affects the bone marrow. It results in decreased production of all blood cells. A common name for Fanconi Anemia is just FA. FA is a rare and very serious, inherited syndrome that has lifelong complications. Some complications are birth defects. In 1927, Guido Fanconi first reported 3 brothers with macrocytosis, pancytopenia, and physical abnormalities. That is where the name of the disorder came from. In the early 1960s, several groups observed that cultured cells from patients with FA had increased number of chromosome breaks.
Mode of inheritance: This disorder is pretty rare but FA has an autosomal recessive pattern of inheritance. What that means is that two mutated alleles, one from each parent, are required
More than half of the people with FA half physical abnormalities. Some abnormalities include irregular skin coloring, or flat patches on the skin that are darker than the surrounding area. Some abnormalities also include malformed thumbs, forearms, kidneys, eyes or hearing loss, and gastrointestinal abnormalities and heart defects. Living with Fanconi Anemia can be challenging depending on how severe you have it. This disorder can affect the victim in many ways. If the victims have any abnormalities then they have to live with those and work with those. The victims also have to get their blood count checked regularly. Even after you get treatment these victims are still affected because they have to worry about the all cancers they are at risk for. For someone who has FA they would feel tired (fatigue) due to the anemia part of the disorder. People with FA often feel fatigue because their body doesn’t have enough red blood cells to carry oxygen throughout the body. People with FA also can have developmental or eating problems, so that is something that they would have to live with. When talking to someone about this disorder I would explain to them that it is a disorder that usually occur or start in children. Also, that it is a disorder that rare, inherited that affects a person’s bone marrow and can cause abnormalities. This disorder is both externally and internally. It is internal because the disorder happens in the bone marrow, but it is also external because this disorder can cause abnormalities on the outside of the body as well on the inside. This disorder is also life-threatening. This disease can be limiting if the person with FA has abnormalities, because they have to overcome those. For example, if they had a malformed forearm they would be limited because they could not use that arm. Half the patients are diagnosed prior to age 10, while about 10 % are diagnosed as adults. FA could happen to any gender.