Albinism

Becca Kilburn Biology 1 Honors 1st block Ms. Beatty


 * Albinism**

The disease I chose to research is called Albinism. Albinism is when people have little or no pigment in the hair, skin, or eyes. They should have melanin, but instead they inherited altered genes that do not give color. Children that are born with albinism have parents with normal hair and eye color, and most people don't even know that they have albinism. Albinism is often referred to as Oculocutaneous albinism type 1, type 2, and type 3. It can also be known as Chediak-Higashi Syndrome.
 * INTRODUCTION**:

There are a multitude of different deletional mutations giving rise to albinism. Mutations and Polymorphisms of LYST, is an example of a damaged chromosome that may give rise to a inability to produce a enzyme that is critical in the production of melanin which gives skn its color. This is an example of an autosomal recessive trait.
 * MODE OF INHERITANCE:**

Albinsim occurs when one of the several genetic defects make the body unable to produce or distribute melanin. Melanin is a substance that give your skin, eyes, and hair color. Type 1 albinism is caused by the defects of melanin. Type 2 is caused by the slight coloring at birth. People with albinism could have many different symptoms including; no coloring to the eye, hair, or skin, lighter than normal skin and hair, and sometimes patchy skin. Albinism is associated with the symptoms of crossed eyes, light sensitivity, rapid eye movements, and vision problems. Albinism is a recessively inherited disease. People with albinism has inherited 2 albinism gene and they got one gene from each parent. About 1 in 17,000 human beings have a type of albinism, up to 1 in 70 carrier of albinism genes.
 * CLINICAL DESCRIPTION OF THE DISORDER**:

There is little to no treatment for albinism. Although there is treatment to ease the symtoms including visual rehabilitation for eyes. Children can often catch it early and wear bifocal glasses. Surgery on the eye muscle will help the movement of the eyes, but the vision will not improve. There is no treatment for the skin, but wearing sunscreen will protect the sun from UV rays. Wearing sunscreen will also relieve light sensitivity.
 * TREATMENT:**

If the child has very light colored hair, light skin, and red or a different color eyes than normal, this may be a detection that the person is an albino. Chemical testing of the hair can provide an easy confirmation of the diagnosis. Many people are unaware of there diagnosis unless abnormal eye movements or vision develop. For some types of albinism, DNA genetic testing can be used to confirm the diagnosis.
 * DETECTION:**


 * SOURCES:**
 * albinismdb.med.umn.edu
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