What are the Causes of Albinism?

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  • Written By: Nick Doniger
  • Edited By: R. Halprin
  • Last Modified Date: 02 October 2016
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The causes of albinism may be traced to recessive genetic mutations. Albinism develops when such mutations inhibit the production of melanin, subsequently causing skin, hair, and eyes to lack normal color. Such a lack of pigmentation affects vision and general development, and may also increase the risk of skin cancer. There are different types of albinism, which are caused by mutations of different specific genes. Some causes of albinism almost strictly affect males.

The primary causes of albinism are linked to mutations in a person's deoxyribonucleic acid (DNA) make-up. Each parent of an albino person must be either albino or carry a recessive gene for the condition without actually having it. In the latter circumstance, the chance of giving birth to offspring with albinism is increased, though not completely guaranteed. If one parent carries the gene for albinism and the other parent does not, the offspring will be guaranteed not to actually have the disorder, but may become carriers themselves.

Such recessive genes inhibit the body's ability to produce melanin, a chemical which is responsible for skin and eye pigmentation. Without proper melanin production, a person's skin and hair tend to be abnormally pale. Eye pigmentation and vision are also impaired. Melanin is produced by melanocyte cells that allows the skin to reflect potentially harmful ultraviolet rays from the sun. Skin cancer due to sun exposure is a common issue among those with albinism or those with lighter pigmented skin in general.


Causes of albinism do vary to a certain degree, as there are different types of albinism caused by mutations of specific genes and chromosomes. For example, there are four types of Oculocutaneous albinism, labeled as types one, two, three, and four. Oculocutaneous albinism type two comes from a mutation of chromosome 15. This variation of the disorder commonly targets Africans and African Americans, causing hair to become yellowish or red, skin to become pale or light brown, and eyes to become bluish or tan colored.

There are even sex-linked causes of albinism. X-linked ocular albinism is a mutation of the X-chromosome, and its victims are almost always male. Males are given both X and Y chromosomes from their parents. When an X-chromosome carries a recessive gene, such the one for X-linked ocular albinism, the genetic trait imminently affects a male subject. Those who are born with this type of albinism tend not to have the obvious pigmentation differences than those who are born with other variations of the disorder, but still have certain vision and development issues.


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