By: Payton Aldrich
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
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
-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.
-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
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.
Medical Assistance and Future
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.
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.
The most common form of children getting this is males, passed down from a mother who was a carrier.