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Albinism

  • Bomi
  • Jun 9, 2022
  • 2 min read

Albinism is a genetic disorder where one’s body produces hardly any pigment melanin. As albinism is not a disease, it doesn’t spread from one to another. However, it can be inherited through family genes.

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IMG Credit: suckhoetrongtamtay.com


Melanin is a substance responsible for the pigmentation of the skin, hair, and eyes. High melanin concentration causes dark pigmentation and low melanin production causes light pigmentation. Melanin plays the role of protecting one’s skin from sunburn by absorbing harmful UV rays and is involved in optic nerve development.

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IMG Credit: PIE magazine


The major symptoms or signs of albinism are pale and very light skin color and white hair. One may have red eyes too, due to blood vessels inside. Since melanin has to do with optic nerve development, albinos could have bad eye sights. Albinos may develop freckles, moles, and experience sunburn when exposed to sunlight. Thus, it is important to avoid direct sunlight exposure. Other symptoms involve strabismus and nystagmus, which are both related to eye movement.


There are some different types of albinism: Oculocutaneous albinism, Ocular albinism, Hermansky-Pudlak syndrome, and Chediak-Higashi syndrome.


First of all, Oculocutaneous albinism is the most common type of albinism caused by mutations in genes such as TYR, OCA2, TYRP1, and SLC45A2. Extremely pale skin, hair, and eyes are the symptoms. Second, Ocular albinism has influence only on the eyes of patients. While most of the patients have blue eyes, irises may seem red or pink due to their paleness. Compared to Oculocutaneous albinism, this type of albinism is less common and patients usually have normal skin and hair colors. Third, patients with Hermansky-Pudlak syndrome show symptoms of Oculocutaneous albinism, blood disorders, bruising problems, and diseases in organs including lungs and kidneys as well. Lastly, Chediak-Higashi syndrome causes symptoms of Oculocutaneous albinism and disorders in the immune and neurological systems.


Unfortunately, albinism cannot be cured. However, there are a number of things to do in order to prevent further damage to skin, hair, and eyes. Since albinos are vulnerable to sunlight exposure, they should try to stay away from the sun, apply sunscreen, and wear sunglasses, hats, and special clothes that block the sunlight if possible.



References

Albinism: Types, Symptoms and Causes. (n.d.). Retrieved from https://my.clevelandclinic.org/health/diseases/21747-albinism


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