Image: http://www.smh.com.au/ffximage/2006/08/30/470_albino_air.jpg
http://rarediseases.about.com/od/rarediseasesa/a/082704.htm
www.aapos.org/displaycommon.cfm?an=1&subarticlenbr=62
Monday, March 9, 2009
Thursday, February 19, 2009
Personal Information
10. What is everyday life like? What is the quality of life
A common myth is that people with albinism have red eyes. In fact there are different types of albinism and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes.
People with albinism always have problems with vision (not correctable with eyeglasses) and many have low vision. The degree of vision impairment varies with the different types of albinism and many people with albinism are “legally blind,” but most use their vision for many tasks including reading and do not use Braille. Some people with albinism have sufficient vision to drive a car.
11. What limitations does the person have?
People with many types of albinism need to take precautions to avoid damage to the skin caused by the sun such as wearing sunscreen lotions, hats and sun-protective clothing. All forms of albinism are associated with vision problems.
12. What are some organizations that can help a family cope with a child's disorder?
http://www.albinism.org/faq/children.html - NOAH
http://www.aapos.org/displaycommon.cfm?an=1&subarticlenbr=62 - AAPOS
13. How possible is it that a cure will be found?
There is no treatment or cure for albinism. Since individuals with albinism have little or no melanin in their skin, they need to use a broad-spectrum sunscreen and wear adequate clothing when outside to prevent ultraviolet-induced damage to the skin. The use of sunglasses will reduce the symptoms of light sensitivity as well as protecting the eyes. An ophthalmologist can treat other eye or vision symptoms. Individuals with albinism should see a dermatologist regularly to be screened for skin cancer. Albinism does not alter life expectancy or have other serious health effects.
A common myth is that people with albinism have red eyes. In fact there are different types of albinism and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes.
People with albinism always have problems with vision (not correctable with eyeglasses) and many have low vision. The degree of vision impairment varies with the different types of albinism and many people with albinism are “legally blind,” but most use their vision for many tasks including reading and do not use Braille. Some people with albinism have sufficient vision to drive a car.
11. What limitations does the person have?
People with many types of albinism need to take precautions to avoid damage to the skin caused by the sun such as wearing sunscreen lotions, hats and sun-protective clothing. All forms of albinism are associated with vision problems.
12. What are some organizations that can help a family cope with a child's disorder?
http://www.albinism.org/faq/children.html - NOAH
http://www.aapos.org/displaycommon.cfm?an=1&subarticlenbr=62 - AAPOS
13. How possible is it that a cure will be found?
There is no treatment or cure for albinism. Since individuals with albinism have little or no melanin in their skin, they need to use a broad-spectrum sunscreen and wear adequate clothing when outside to prevent ultraviolet-induced damage to the skin. The use of sunglasses will reduce the symptoms of light sensitivity as well as protecting the eyes. An ophthalmologist can treat other eye or vision symptoms. Individuals with albinism should see a dermatologist regularly to be screened for skin cancer. Albinism does not alter life expectancy or have other serious health effects.
Wednesday, February 18, 2009
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.
Genetic Counselor
What is a Genetic Counselor—Qualifications, Education, Job details...
Genetic counselors are health professionals with specialized graduate degrees such as a M.D or PH.D
Genetic counselors provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and review available options with the family.
Genetic counselors are health professionals with specialized graduate degrees such as a M.D or PH.D
Genetic counselors provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and review available options with the family.
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