Albinism - Scientific & Medical

Physical Effects of Albinism

In humans, the term albinism refers to a group of inherited conditions where there is little or no production of the pigment melanin in the skin, hair and/or eyes. People with albinism generally look different from their families because their skin and hair lack the usual amount of pigmentation. Reduced or absent pigment in the eyes causes some degree of uncorrectable low vision. Reduced or absent pigment in the skin makes the person with albinism more vulnerable to the harmful effects of the sun and more susceptible to suffer from skin cancers.

Albinism is rare. The exact incidence of albinism can only be estimated due to lack of precise statistics

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Psychosocial Effects of Albinism

People with albinism generally look significantly different than their families due to the lack of pigment in the skin. The difference in appearance is exacerbated when there is a high degree of contrast between the skin tone of persons with albinism and that of the dominant population in their community. It often leads to social stigma based on skin color. An additional ground for stigma is attached to the disability caused by the low vision of persons with albinism.

Persons with albinism are therefore exposed to the intersecting discrimination of both disability and color, with significant psychosocial impact This bias ranges from teasing and social exclusion to discrimination in school and employment. In some regions of the world, discrimination can take extreme forms and lead to violent attacks and killings to obtain body parts.

In some regions of the world, women who have albinism or who give birth to children with albinism may face aggravated forms of discrimination. They may often be blamed for the misunderstood condition and face divorce, abandonment, neglect and exclusion  from their community.

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Compounded discrimination entails extreme vulnerabilty and higher risk of poverty for themselves and their children. To know more: Women and Children Impacted by Albinism (2019).

In numerous countries around the world, witchcraft-related beliefs and practices are an underlying cause of considerable violence against persons with albinism. In Africa, where myths about them being ghosts, their body parts having supernatural powers or an ability to curse or cure, are widespread, persons with albinism live in fear of kidnappings, mutilations, killings and grave desecrations. These attacks are committed for obtaining limbs, skin or hair for ritual use by witch doctors under the erroneous belief that they would bring wealth or success.

Beliefs and practices related to witchcraft vary between countries and even within ethnicities in the same country. To learn more:

Physical Effects of Albinism

Below is a concise summary of the most important physical aspects of albinism. This information will be expanded in the future. A great deal of additional information on the medical and scientific aspects of albinism in humans is available on the Internet. The GAA recommends that you rely on information found on the Internet at websites authored by established medical and scientific institutions.

Albinism is an inherited genetic condition that reduces the amount of melanin pigment formed in the skin, hair and/or eyes. Melanin gives skin, hair, and eyes their color.

The cause of albinism is a defect in one of several genes that produce or distribute melanin, the pigment that gives skin, eyes, and hair their coloring. The defect may result in the absence of melanin production or a reduced amount of melanin production. Low or no melanin production in persons with albinism is due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin.

Albinism occurs in all racial and ethnic groups throughout the world. 
Albinism is not a disease, it is not contagious and it cannot be spread.

It is generally believed that albinism occurs on average in about 1 in 18,000 persons worldwide. However, in some regions of Africa it is estimated that 1 in every 5,000 to 15,000 people have albinism. An incidence of as high as 1 in 250 has been observed in some remote areas with relatively closed populations.

A common myth is that people with albinism have red eyes. Although lighting conditions can allow the blood vessels at the back of the eye to be seen, which can cause the eyes to look reddish or violet, most people with albinism have blue eyes, and some have hazel or brown eyes.

Another common misconception is that all people with albinism have extremely pale hair, skin. In fact people with albinism have a wide range of coloring in their hair ranging from platinum white to various shades of blonde or reddish. Likewise there is a range of skin tones for people with albinism.

Generally people with albinism have some degree of uncorrectable low vision due to the abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain.

Due to reduced or absent melanin pigment in the skin, it’s important for persons with albinism to avoid sun damage to the skin and eyes by taking precautions such as wearing sunscreen or sunblock, hats, sunglasses and sun-protective clothing.

There are several different types of albinism, including:

  • Oculocutaneous (pronounced “ock-you-low-kew-TAIN-ee-us”) albinism, or OCA, affects the skin, hair and eyes. Several genes have been determined to cause OCA in an autosomal recessive inheritance pattern.
  • Ocular albinism (OA), affects only the eyes. OA is inherited in a sex linked pattern.
  • Hermansky-Pudlak syndrome, or HPS, is a type of albinism that includes the characteristics of OCA along with the possibility of blood disorders, bruising issues, lung, kidney or bowel diseases.
  • Chediak-Higashi syndrome is a type of albinism that includes the characteristics of OCA along with immune and neurological issues.

Except for vision problems, and additional metabolic problems found in the syndromic forms of albinism most people with albinism enjoy typical health and life span. They are extremely vulnerable le to skin cancer however, which is the first cause of premature death in persons with albinism. 

There are no known connections between albinism and developmental delays. People with albinism have typical intellectual skills.