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Albinism

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by

MR. S.

on 7 April 2016

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Transcript of Albinism

Are there any treatment or cures?
What is Albinism?
Albinism includes a group of inherited disorders that are characterized by little or no production of the pigment melanin.
What Causes the disorder?
Albinism is caused by a mutation in one of several genes. Each of these genes provides instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your skin and eyes. A mutation may result in no melanin at all or a significant decline in the amount of melanin.

In some types of albinism, a person must inherit two copies of a mutated gene — one from each parent — in order to have albinism (recessive inheritance).

What gene or chromosome is affected by this disorder?
X chromosome
What population is affected?
In fact, one out of every 17,000 people worldwide has some form of albinism. In some populations, it occurs in one out of every 200 births.
Albinism

How is Albinism inherited?
In some types of albinism a person must inherit two copies of a gene, one from each parent, to have Albinism.
Prevention
If a family member has albinism, a genetic counselor can help you understand your chances of having a future child with albinism. He or she can also explain the available tests and help you figure out the pros and cons of testing for your family member.
Other names for Albinism:
Albinism can also be called Achromasia
What are the symptoms?

Absence of color in the hair, skin, or iris of the eye
Lighter than normal skin
Patchy, missing skin color
By: Michelle Roman
Treatment is very limited but there is:
prescription lenses
eye exams
surgery (rarely)
adults need annual eye and skin exams
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