What causes albinism?

Albinos around the world face day-to-day health issues, but in Africa they have a bigger problem: being hacked to death for body parts















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ALBINISM: People and animals with albinism have complete or partial loss of the pigment that colors their hair, skin, and eyes. Image: ©iStockphoto.com/ManoAfrica

Albinos—people with white hair and skin, and often reddish eyes—are being mutilated and murdered for their body parts in Tanzania, according to The New York Times. Sometimes as family members look on in horror, groups of machete-wielding men have chopped off the legs, heads, and genitals of albinos.

Among the dead: a seven-month-old baby, a cassava farmer with two children, and a child murdered by his own father, according to reports by the BBC.  The brutal killings -- 40 since 2007 -- are fueled by rumors that albino blood, skin, and hair have magical powers. People are actually weaving albino hair into their fishing nets and fashioning amulets with albino body parts, hoping that these devices will bring them riches, The Times reports in a story profiling Canadian albino Peter Ash, founder of Under the Same Sun, an albinism advocacy organization aimed at shaming the Tanzanian government into stopping the murders.

The horrifying scenes pile onto the day-to-day issues albinos face: Albinism is a debilitating condition that causes vision loss, extreme sun-sensitivity, and sometimes embarrassment and stigma. Albinos have long been villainized in literature and pop culture—think Silas, the evil monk in The Da Vinci Code, or the nefarious blond twins in The Matrix Reloaded

So what causes albinism, and are there any treatments? To find out, we checked in with Raymond Boissy, a professor of dermatology at the University of Cincinnati College of Medicine.

[An edited transcript of the interview follows.]


What is albinism?
Albinism is a disease in which a person has partial or complete loss of pigmentation (coloring) of the skin, eyes and hair.

What causes it?

Genetic mutations that affect the production of a pigment called melanin. There is a cell called the melanocyte that is responsible for giving skin, hair, and eyes pigmentation. In albinism, the melanocytes are present, but genetic mutations interfere with their pigment production or their ability to distribute it to keratinocytes, the major cell type comprising the epidermis, or outer layer of the skin. There are currently five known genetic types of albinism, the most common being oculocutaneous type 1 (OCA1) and type 2 (OCA2). Oculocutaneous means affecting the eyes and skin ("oculo" meaning eye and "cutaneous" meaning skin).

Patients with OCA1 have mutations in a gene called TYR that is responsible for creating the enzyme tyrosinase, used by cells to convert the amino acid tyrosine into pigment molecules that color the skin, hair, and eyes. OCA2, the most common form of albinism in Africa, results from a mutation in the OCA2 gene, which encodes the P protein. We don't know what this P protein does.

What does a person with albinism look like?
Most people with OCA1 have snow-white skin, snow-white hair, and no pigment in their eyes. The iris (colored part of the eye that encircles the pupil) is a pale bluish pinkish color, while the pupil may actually be red. This redness comes from light entering the pupil and reflecting off of blood vessels in the retina, the light-sensitive layer of tissue lining the back of the eyeball. Normally, the pupil appears black because pigment molecules in the retina absorb light entering the eye, preventing it from bouncing back to the outside world. 

Those with OCA2 can make a small amount of pigment and thus may have light blond to brown hair color. Their irises are blue to light gray and their pupils dark red to light gray.



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  1. 1. DougDuBois 10:01 AM 2/24/09

    While all people with albinism have some degreee of visual impairment, by no means are ALL of them 'legally blind'. There is a wide range of visual acuity amongst people with albinism - generally, with best correction, the range is from 20/60 to 20/400. "Legally blind" standards differ from state to state, but this is from Wikipedia:

    In North America and most of Europe, legal blindness is defined as visual acuity (vision) of 20/200 (6/60) or less in the better eye with best correction possible.

    Please make the adjustment that "many" people with albinism are legally blind. Many are not and can drive in most states.

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  2. 2. tribalwaif 12:27 PM 6/23/09

    In addition to the range of vision comment by DougDuBois, individuals with OCA1 , particularly OCA1B can have some color in their hair, eyes and skin. 1B used to be called Yellow mutant albinism in the 1980s.

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  3. 3. happydude60 11:17 PM 2/10/10

    i am doing a report on albinism right now it taking forever thanks for the information. =)

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  4. 4. happydude60 11:17 PM 2/10/10

    i am doing a report on albinism for school it is taking forever thanks for the information =)

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