Albinism or Hypopigmentation
By Joe Oshesky
- Mutation in one several genes that deals with the production of melanin that protects the skin from the harmful UV rays.
- The chromsome that is affected is the X chromosome
What population is effected by this disease
Less than 5 people per 100,000 in the US
How it is inherited
- Albinism is a recessive allele and is more often found in boys.
- The parents can have children but are at risk of giving this disease to them. Since it is recessive, it requires both parents to have or be a carrier of the albinism trait. This disease is also only a problem if your family has had history with albinism.
- Is it preventable? Doctors can not prevent this mutation but the parents can get there genes tested to see what the chance there kid is going to have this.
Treatments or Cures and Research status
- There are no treatments or cures to replace the melanin. The symptoms of this disease are treatable such as crossed eyes and they can wear special glasses and clothing to be safe from the UV rays.
- There is no cure coming anytime soon because they have to figure out a way to add the melanin pigment back into each skin cell.
- Right now in the research process they know most of the information of this disease. Scientist know what genes are mutated, which chromosome is involved, and what causes the skin and hair color to turn white.
- Skin turns white
- Hair becomes white
- Crossed eyes at birth
- Sensitivity to light
- Vision problems or even blindness
- Rapid eye movements
Medical assistance and long term outlook for the child.
- The child at birth may have to have his eyes fixed if they are crossed and may have to get a pair of glasses that allows them to see better. As they get older they will need to make sure their vision is good and that they are not developing skin cancer or any other skin issue from the sun.
- The child will face many challenges growing up because they will have to wear certain clothing to protect them from the light, they are at a way higher chance of developing skin cancer, and most albinos feel different and suffer social issues growing up.
- 4 different types
- More common in Nigeria than any other country
- They don't need to have red or pink eyes
- In some Saharan countries albinos are hunted for their body parts by witch doctors.