Medical Information

How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

The disease is an X linked disorder and is inherited if a male gets one X chromosome from their mother that is affected. Females can get it if they acquire two of the messed up X chromosomes. If women have only one they are a carrier and do not have albinism, but if a male has just one they will definately have it. It is recessive because it is X linked. It is genetic becuase it only affects part of the X chromosome.

There are three different types of albinism that are each different becuase they are caused on different chromosome pairs. OCA type 1 is caused by a gene on chromosome 11. OCA type 2 is caused by a gene on chromosome 15. OCA type 3 is caused by a gene on chromosome 9.




If this disease is genetic--what are the possible genotypes of the parents? If the disease is a chromosomal abnormality, describe the abnormality.

Possible Genotypes of parents: CC + cc, CC + Cc, Cc + Cc

How prevalent is the disease in the population (include statistics)?

Approximately one in 17,000 people have one of the types of albinism.

What are the chances of a person with this disease passing the disease to their offspring (include possible scenarios)?

Scenarios:

• Full Albino and Full Albino have a 100% chance of having an Albino child.
• If both parents with albinism have the same type of albinism (i.e. OCA1, then the children will be affected), However if both parents have different types of albinism the children will be normally pigmented and carriers for both defective genes. (Leigh Lauflin)
  


• Full Albino and Normal person have a 50% chance of an albino child and a 50% chance of a carrier, but normal child.


• A heterozygous albino male and a carrier female have a 75% chance of getting an albino or carrier child and a 25% chance of getting a normal child.

How is the disease diagnosed?

Chemical tests are done on the hair and also blood tests to diagnose the disease at birth.

What are the physical symptoms of the disease?

Some physical symptoms are red eyes, white or platinum blond hair, and white skin. Lots of eye problems.

What is the Life expectancy for someone with this disease?

They have normal life spans.

How can the disease be treated?

There is no cure for albinism. So the treatment is aimed to ease the symptoms and it depends on the extent of the disorder. Treatment for the eye conditions are things such as visual rehabilitation. Most eye problems can be helped with glasses.