Albinism: A genetic disorder in living beings.

Human beings have a series of characteristics that make us different and at the same time unique within our species, this is what we call our genetic information. Surely on more than one occasion, you have seen on television or internet, people with a skin color, hair, and eyes, something unusual. They are individuals that stand out for their white tone in most of their body including their pupils and eyebrows, but, did you know that this disease also affects animals?.

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The cause is due to mutations in different genes, which produces a reduction or total absence of the melanin pigment of eyes, skin, and hair. Albinism is a heterogeneous genetic disorder. In non-albino individuals, melanocytes transform the amino acid tyrosine into the substance known as melanin. Melanin is distributed throughout the body giving color and protection to the skin, hair, and iris of the eye.

In humans and other animals, cells called melanocytes convert tyrosine (an amino acid) into melanin. This pigment is distributed throughout the body, protecting and providing color to the iris of the eye, hair, and skin. Those who have albinism, do not manage to generate melanin or do not get the pigment to be distributed throughout the body.

When the body is unable to produce this substance or distribute it, hypopigmentation occurs, known as albinism. Melanin is synthesized after a series of enzymatic reactions (metabolic pathway) by which the transformation of said amino acid into melanin occurs by the action of the tyrosinase enzyme.

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Albinism is a hereditary condition. According to how the disorder develops, it is possible to talk about different types of albinism: complete albinism, oculocutaneous albinism, etc. It is also possible to inherit a normal gene and one with albinism. In this case, the normal gene provides enough information in its cellular model to generate a bit of pigment. Many animals with albinism may experience a variety of vision problems. In fact, they may have an iris that varies from light gray or from blue to brown.

Albinism in the sexes.
Although the statistical results indicate that there is the same probability in both sexes of suffering from albinism, the truth is that science has confirmed that men are more likely to have this deficiency than women.

It is established that people who have albinism share a series of significant characteristics, in addition to those already mentioned:

• A high percentage of albinos have severe vision problems that can not even be corrected by using glasses. And is that they are in an abnormal situation both what is the retina and the connections between brain and eyes.

• Your complexion is really clear so it is necessary that the protection they use with respect to the sun is very strong since otherwise, they could have serious consequences for your skin.

Types of albinism

Generalized: oculocutaneous albinism (affects all parts of the body that have melanin).

• Type I: it is the most severe type and there is no synthesis of melanin.
• Type II: it is the most frequent and the mildest and there is a minimum synthesis of melanin.

Localized or partial (affects some parts of the body):

• Eyepiece: only the eyes are affected.
• Linked to sex: variant linked to the chromosome x and that only affects males. They can associate deafness.
• Partial: Characterized by the appearance of small localized areas lacking pigmentation such as a small tuft of white hair.

The vast majority of those who have albinism face a high risk of social isolation. And is that in many corners of the planet there are absurd legends and prejudices regarding these individuals. The good example of that is Africa where in many of the countries albinism is associated with witchcraft, hence those who are albinos are subject to persecution to end their lives. The latest data in this regard indicate that in recent years more than 160 people have been killed by that condition in the aforementioned continent.

There is no treatment that can replace the lack of melanin that causes the symptoms of albinism. Veterinarians can only treat, not cure, eye problems.

Albino animals are often born white with red, pink or even clear eyes. The animal may also appear pink, yellow or brown, or be colored with pigments from the diet. Albinism is associated with vision problems and increased susceptibility to skin cancer, but animals (like humans) with albinism are no different from their peers. In some environments, the albino animal is harmed by the loss of camouflaging power of melanin, but some predators look like normally colored animals more attracted.

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Mammals, birds, fish, amphibians, invertebrates and reptiles, no one is protected against albinism, including man. Each animal species often sees its peers, trying to endure the suffering of this disease can common. Some animals are born with a coat, a feather, a shell and a white skin or almost white color since they do not have in them the substance that the colors of their coat. albino animals are sensitive to the sun's radius, they are easy prey because they are visible to predators or to be picked up by their prey since they do not have the color that camouflages compared to their companions who have more luck.

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The albino organs are fragile because they are in contact with the bloodstream. Cellular enzymes are sometimes ineffective in some individuals, which hinders the functioning of the body's systems and organs. The immune system is weak; because albinos are easily contaminated, while others are less likely to be contaminated

The albino animals, in general, do not survive long in their natural environment due to their weakness in the sun and their lack of color gives them away to their prey and predators. Life in captivity is, therefore, their only way out.

People who have albino status can live a normal life, however, the lives of people with the Hermansky-Pudlak syndrome can be shortened by lung or heart disease.

In general, individuals with albinism should be assessed from birth by a multidisciplinary team of specialists consisting of pediatricians, ophthalmologists, dermatologists, psychologists and social workers, since albinism can cause problems of social adaptation, as the condition of these patients confers them an aspect different from that of their relatives, companions and other members of their ethnic group.

There is no cure for the condition of albino, only treatments aimed at preventing premature aging and skin cancer can be carried out.

For the treatment of albinism visually, surgery can be performed to correct strabismus, and in the case of esotropia or extropy, surgery can help vision by widening the visual field (the area that the eyes can see while you look at a point). But for the most part, the treatment of eye conditions consists of visual rehabilitation, use of bifocal glasses, use of sunglasses to reduce photophobia, even some resort to hand magnifiers or small special telescopes and others prefer to use a magnification of a screen in computers.

References.

• https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism
• https://en.wikipedia.org/wiki/Albinism
• https://www.britannica.com/science/albinism
• https://www.healthline.com/health/albinism#risk-factors
• https://www.scientificamerican.com/article/killing-albinos-tanzania-albinism/

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