Saturday, November 12, 2011

There are different types of albinism, some inherited differently. The albinism I'm talking about is an autosomal recessive genetic disease. Keep in mind that the type of albinism you have could be differently inherited due to there being different types. For example ocular albinism is x-linked. My information is on oculocutaneous albinism.There are 4 types on this kind of albinism having to do with enzymes and amino acids that are supposed to make melanin. It happens when a person can't make enough melanin which is a hormone that gives your skin, hair, and eyes color. It protects you from the sun and harmfull UV rays. For the parent's possible genotypes let RR, and Rr stand for a person without albinism, and rr stand for a person with it. The parents could both have heterozygous (Rr) genotypes, or homozygous recessive (rr) genotypes. They could also have one heterozygous, and one homozygous recessive parent. These could all lead to the child they have having albinism. In america 1 in 17,000 people have it. Albinism isn't very common.If one of the parents is homozygous dominant then it's impossible for their kids to get it. If both parents are heterozygous then their kids have a 25% chance of getting albinism. If both parents are albino, then their child will be also, and if one parent is heterozygous with the other being homozygous recessive then the child has a 50% chance of having it. Doctors diagnose this by looking at the coloring of the skin, eyes, and hair of the patient. if all lack coloration, and the eyes are red from the blood vesselsin them then you are albino. They could also look at your DNA.The physical symptoms of albinism are no, or almost no coloration in the body except for red eyed, lots of different eye problems ranging from vision to being cross eyed, and are prone to damage caused by the sun. This particular genetic disease does not cause any extra health problems though I suppose those who live in tropical countries have a higher risk of developing skin cancer. A person with it has the potential to live as long as a normal person. There is sadly no cure, however you can work on your eye problems, wear sunglasses when it's bright, and remember to protect your skin from the sun.
Citations:
www.albinism.org
rarediseases.info.nih.gov/html/resources/info_cntr.html
http://www.kumc.edu/gec/support/

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