Genetic Diseases: Albinism

By Garrett Rogers

What is Albinism?

Albinism is a normally recessive genetic disease that is caused by a problem in some intracellular enzymes, this disease affects many body systems including the nervous system and the integumentary system. The result is the offspring having skin the color of egg whites, snow white hair, and sometimes blood red eyes. It is caused by the body not producing enough melanin, a pigment in the skin that makes you have more or less color on your exterior. Dark skinned people have more melanin than light skinned people. This disease can be passed down throughout generations.

Who discovered it?

Sir Archibald Edward Garrod discovered albinism in the early 1900's. He believed that Albinism was a genetic disease that had to do with a defect in an intracellular enzyme. Archibald was born on November 25, 1857 and died on March 29, 1936 at the age of 78 years old. He had three children, two of which died in the first World War. His third passed away during the Spanish Flu pandemic. Not only did he discover albinism but discovered abnormal uric acid metabolism that was a main cause of gout. His main field of interest was metabolism but, as you can see, he discovered a genetic disease as well.

the different types of albinism and alternate names

There are multiple different types of albinism with different symptoms to each. Some of these other diseases that are linked with Albinism are:

  • Oculocutaneous Albinism: A disease (linked with Albinism) that affect the optic nerves in the eyes.
  • Ocular Albinism: Another name for Oculocutaneous Albinism.
  • Hermansky-Pudlak Syndrome: A life threatening form of albinism that can cause lung disease and bleeding problems

Some of the other diseases that are linked to Albinism are referenced as "Localized Albinism". Localized Albinism is what you call a disease that is linked with Albinism that only affects one area of the body. A few examples are:

  • Chediak-Higashi Syndrome: Affects the melanin all over the skin, but is not completely albinism as it does miss a few spots (meaning that those spots are normally colored). This gives a sort of spotty effect on the skin.
  • Tuberous Sclerosis: A more minor version of Chediak-Higashi Syndrome as it only impacts small parts of the skin.
  • Waardenburg Syndrome: Symptoms of this include a lock of hair that grows on the forehead, or when there is a lack of color in one or both irises.

Albinism, like many other syndromes, has different, more minor, diseases that are linked directly or subtly towards it.

What Albinism Does to Your Body

Albinism is a very noticeable disease as it is normally shown at birth. People who have this disease do not have enough melanin in their body. This causes a loss of color in the skin, hair, and eyes. Some of the defects from Albinism is that you are at a higher risk for skin cancer and are sunburnt very easily. Also, most "Albinos" have problems with their vision. A lot of Albinos will have crossed eyes and REM (Rapid Eye Movement). They will also have a very high light sensitivity, meaning that they are hurt easily by light. Multiple downsides are a part of this disease, but most of them can be treated or protected.

Treatments

Some people believe that there is a cure for albinism but there is not. There are only treatments for certain parts of it. An example is wearing glasses to fix their vision or wearing high SPF sunscreen to protect from UV rays that are more powerful to these albino's skin than most others. People will also normally get surgery on their eyes to fix quick spasms in the muscle. Since most of these problems are visionary, of course there will be a problem with UV rays. The UV rays will, like the skin, hurt the eyes of an albino more than most other. That is why most albinos have to wear powerful sunglasses. There are many treatments to this hereditary disease, most of these make their condition almost nonexistent. there are no cures for this disease yet but the treatments for it will create a more normal world for these people.

Punnett Square: Albinism

Since Albinism is a recessive disease, it is rarer than most to find. This Punnett Square will make you understand how rare albinism is, even with two carrier parents.


Possible Genotypes:

AA, Aa, aa


Possible Phenotypes:

Not an Albino, an Albino


Albinism: 25% or 1:3

NonAlbinism: 75% or 3:1

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Fun facts

  • Humans are not the only things that can have albinism, some animals can too!
  • Some famous people have/had this disease including: Emperor Seinei of Japan, Salif Keita, and Johnny and Edgar Winter.
  • Finally, some people believe that if you have this disease, you will live a shorter life, this is not true as most albinos actually live longer than most.

Bibliography

MedlinePlus:

"Albinism: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, 9 Apr. 2015. Web. 16 Apr. 2015. <http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm>.


Vision For Tomorrow:

"Genetics & Types of Albinism | Vision For Tomorrow Foundation." Vision For Tomorrow Foundation. N.p., n.d. Web. 17 Apr. 2015. <http://www.visionfortomorrow.org/genetics-of-albinism/>.


Who Discovered It?

"Who Discovered Albinism?" Who Discovered It. N.p., n.d. Web. 17 Apr. 2015. <http://www.whodiscoveredit.com/who-discovered-albinism.html>.


Healthline:

Kivi, Rose, and Matthew Solan. "Albinism." Healthline. Ed. Sylvia S. Hanna. Healthline Inc., 25 July 2012. Web. 19 Apr. 2015. <http://www.healthline.com/health/albinism#Treatment7>.