Albinism Research Paper

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ALBINISM

December 1, 2014
Health 1
Brittney Sanchez
Marissa Byers
Albinism is not a disease it is an inheritance that any race can be affected by. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited altered genes that do not make the usual amounts of a pigment called melanin, which determines what the skin, hair, and eye color will be. Research shows that there are seven different types of albinism. Oculocutaneous albinism type one results from a genetic defect in an enzyme called tyrosinase, this enzyme helps the body to change the amino acid tyrosine into pigment. The result of type one is white hair and light skin. Oculocutaneous albinism type two results from a genetic defect in …show more content…
Oculocutaneous albinism type three is rarely described, it’s a result from a genetic defect in TYRP1, a protein related to tyrosinase that gives substantial pigment. Oculocutaneous albinism type four is a genetic defect in the SLC45A2 protein that helps the tyrosinase enzyme to function which has similar results to Oculocutaneous albinism type two. Hermansky-Pudlak Syndrome is a rare type of albinism, which mostly affects the Puerto Rican descent. It may involve bleeding disorders, bruising, lung problems and intestinal disorders. Chediak-Higashi Syndrome is also a rare form of albinism, which is characterized by an abnormality in certain types of white blood cells that lowers a person’s resistance to infection. Lastly, Griscelli Syndrome is a very rare type of albinism, there is only 60 known cases of …show more content…
A less accurate way of detecting albinism can include an evaluation of symptoms by your doctor, or an electroretinogram test to reveal problems with your eyes associated with albinism. Since there is no way to cure albinism, there is treatment to relieve symptoms and to prevent sun damage. Some treatments may include sunglasses to protect the eyes from UV rays, protective clothing and or sunscreen to protect the skin from UV rays, prescription eyeglasses to correct vision problems, and surgery on the muscles of the eyes to correct abnormal eye
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