Is Albinism Genetic?

What is albinism?

Albinism refers to a number of conditions known for their effects on the human skin. The characteristic appearance of albinos, pale skin with lightly colored hair, has made this condition one of the most widely recognized in medicine. There are many unfortunate misunderstandings about albinism and these misunderstandings can cause great suffering for those who are afflicted with albinism. The truth is that albinism is a hereditary disease with a strong genetic influence.

Though there are numerous variants of albinism, they tend to share a number of common challenges. Albinism is strongly correlated with blindness and many people with albinism are unable to perform important tasks such as driving. Albinism appears to carry a higher risk of skin cancer and other diseases that affect the skin. The issues caused by albinism make living with the condition a daily challenge. However, many albinos manage to live full lives on their own terms.

The origins of albinism

Albinism is believed to have originated in Sub-Saharan Africa during the evolution of our ancestors. Albinism is most frequently seen among people from Sub-Saharan Africa and their diaspora. In some countries of Southern Africa, rates of albinism can reach incredibly high levels. In Zimbabwe, albinism is found in 1 out of every 1000 persons, compared to just 1 in 20,000 people living in the United Kingdom. This high rate of albinism suggests the disorder is in fact of genetic origin.

Diseases similar to albinism are found in other species, but it is not believed that albinism among humans shares a relationship to these disorders. Nevertheless, many researchers look to these other species to develop reliable models to help us better understand exactly how albinism came into existence and what it entails in its entirety.

What genes influence albinism?

Albinos are known for their pale skin and scientists are well aware that a lack of melanin is associated with pale skin. Thus, genes that influence skin color are likely to play a role in albinism. MC1R, a gene involved in the production of melanin, is strongly believed to play a role in albinism. People with albinism tend to have lower levels of melanocortin receptors and this leads to higher risks of skin cancer. Another important area of genetic influence for albinism is in the ocular challenges common among patients. Melanocortin receptors are involved in proper eye development and this in turn tends to lead to higher levels of blindness among the albino population.

Another important gene influencing albinism is the presence of genes involved in the metabolism of tyrosine. Tyrosine is an important amino acid which plays an important role in the production of melanin - when the body converts tyrosine to melanin. Persons with albinism are known to possess a mutation of TRP-1, the gene responsible for this metabolism, in relatively high rates. It is believed that this gene plays a key role in albinism.

Does environment influence albinism?

Albinism is not treated as a disease with a strong environmental component. It is clear from genetic evidence and hereditary studies that albinism is a disease you are born with, and doctors use genetic testing to diagnose the disease. Knowing that people with albinism are suffering from a genetic condition, researchers generally believe environment only plays a role in the outcome of patients with albinism. If someone with albinism does not receive the proper help they need, they may not live their lives to their full potential and they may suffer from comorbidity with other diseases.

Treatment of albinism

The treatment of albinism generally revolves around helping albinos live with their condition. They often need visual aids in order to read and perform important tasks, so albinos regularly see ophthalmologists, doctors who specialize in diseases of the eye, in order to make sure their eyes are in a healthy condition. There is no cure for albinism and this unfortunately means people with it are forced to find ways to live with the disorder. However, as medicine advances the outcome for those with albinism improves and allows them to live fuller lives.

Last Reviewed:
June 14, 2017
Last Updated:
October 11, 2017
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