Albinism

by Dylan Ford

Name of genetic disorder

Albinism, also known as achromia, achromasia, achromatosis, common name albino.

Cause of disorder

Several mutations in genes.

What gene or chromosome is affected by this disorder

Mutation of X chromosome.

Symptoms

No color in hair, iris, and skin, lighter skin and hair, and missing skin color patches.

Population affected

1 in 70 people have albinism.

Can anyone be a candidate for this disease

Any race or gender can have albinism.

How is it inherited

It is inherited at birth.

What kind of medical assistance with the affected child need

Shaded eye glasses, eye patches for infants, and nitisinone.

Will further assistance be need as child grows

As the child grows they will need less assistance.

What is long term outlook for child

The child will have to do less outdoor activity due to the sunlight, but most forms of albinism aren't for life.

Are their treatments or cures

They use sunblock for treatment to reduce symptoms.

Could it be prevented

Genetic counseling is used for prevention.

Can this individual have children in the future

Yes.

Will the children be affected

It is not a 100% chance but they may be a carrier.

What is the current status on the disorder

There is currently a team trying to conclude the cause for the lack of melanin production.

Is there a cure/new treatment coming soon

There is hoped to be a cure and new treatment for the future.