Albinism

By: Payton Aldrich

Gene Mutation

There are several different kinds of Albinism. These mutations take place on the sex and autosomal chromosomes. Different kinds of Albinism have there mutations take place on different chromosomes.


There are 8 different types of Albinism

-OCA1- defect in the tyrosinase enzyme

-OCA2- defect in OCA2 gene

-OCA3- defect in TYRP1 gene

-OCA4- defect in SLC45A2

Ocular Albinism (OA)- gene mutation on X chromosome (mainly males)

-Hermansky- Puldalk Syndrome- defect in one of 8 genes

-Chediak- Higashi Syndrome- defect in LYST gene

-Griscelli Syndrome- EXTREMELY RARE ONLY 60 CASES WORLDWIDE, defect in one of 3 genes

Tests?

If someone has a child that does not have albinism present, there are no tests to see if they are a carrier of this mutation. Scientists have analyzed DNA of people with this mutation and have found that albinism does not always take place in the same spot and there are so many different forms of it.

Symptoms and Population

-OCA-- People completely lack melanin. The pigment that gives the eyes, skin and hair coloring. They have very pale skin, white hair and light eyes. The color in their bodies could increase as they get older though.

-OCA2-- This causes a reduce in melanin production. As a result, babies are born with light sink, but could have yellow, blonde or brown hair.

Most common in Sub-Saharan Africans, Native Americans, and African Americans.

-OCA3-- Results in reddish brown skin, reddish hair, and brown or hazel eyes.

Black South Africans

-OCA4-- These symptoms are very similar to those with OCA2.

East Asian Descent

-OA--Those affected have completely normal skin and hair color. Only the yes are affected. There is no color in the retina of the eye.

Almost only males are effected

Hermnaksy- symptoms are similar to OCA, but include problems with there lungs and have bleeding disorders

Very Rare

-Chediak- The defects are similar to those of OCA. This does not effects the entire body though. Hair can be blonde or brown but will have a silvery Shine to it. Skin can be milky or grayish color-- not all skin can be affected though. There is also a decrease in white blood cells, causing infections often.

Very Rare

-Griscelli- normal effects of albinism occur but may not effect the entire body. Along with this they have Immune and Neurological problems. Most die within their first decade of life.

Only 60 cases since 1978

Canidates

Albinism is an inherited disease. So anyone can get this if it is passed down from your parents. Though, albinism in common in certain ethic and racial groups throughout the entire world.


In the U.S. every 18,000- 20,000 people inherit this. In some other countries though, this rate can be as high as everyone 3,000 people.

Inheritance

This is a recessive trait passed down form your parents. Since it is a recessive trait, the parents will not actually have albinism but are carries of it. If both parents are carries then there is a 25% chance of inheriting it. This is usually passed on the X chromosome (sex-linked) so males are more likely to get it.

Medical Assistance and Future

An ophthalmologist will have a huge key role in your albinism. Ocular problems are very very often. AS time goes on your eyesight deteriorates very much. They will be a consultant for any glasses, eye drops, or surgeries needed to help make you comfortable and prevent you from loosing your eyesight completely.


As far as life span and normal health, they should live a healthy normal life. Educational development and social skills should develop the same as well.


Because of the lack of pigment in there skin sunburns are very common and could cause further harm if not treated properly. It is recommenced to seek dermatologists regularly to check their skin.


Symptoms could include blood clotting and trouble hearing as well. SO constant check up's are not a bad idea of the albinism is sever. It is also very normal for them to feel isolated and alienated because of their appearance. So help from a therapist is common.

Cure

In 2011 a few cures would found to help with Albinism. Starting a young age kids will start needing to wear glasses. Some may only need regular glasses, while others may need some extra and need to wear bifocals. It may also be wise to start eye patching children starting at the age of 6. Nitisiones is a plasma they could be injected into the eyes of people with Albinism. This has not been used yet but they plan to use it in the future. Nitisiones will improve pigment tin eyes and hair.


Strabismus Surgery- This is a surgery commonly performed on albinism's eyes. Patients do not seem to find any relief after this surgery though because it does not reconnect the neural connections.


CONSULT HEMATOLOGISTS REGULARLY


Albinism cannot be treated as a whole--- only symptoms can be subsided.

This is the most up to date cures on albinism.

Prevention

There is no known way to prevent the inheritance of albinism.

Children?

Having this gene will not affect if having children is possible or not. They are able to give birth if they want to. If the parent with the gene has a child with someone who does not have this gene, then there children will not have this gene but have a 1 in 2 chance of being a carrier. Then if their child then continues on and has children with someone who does have albinism that have a 1 in 4 chance of having this gene present and not just carrying it.

The most common form of children getting this is males, passed down from a mother who was a carrier.

This is Sir Maejor, who posses Albinism

He is a famous actor who has appeared in many shows. One being the popular show, "American Horror Story." He is also a model and has stared in 3 of FX's movies. He has been on the cover of many magazines as well.