Definition and classification
Albinism represents a group of genetic anomalies inherent in the synthesis of melanin; the term "albinism"Comes from the Latin"albus”, Which means“ white ”.
- "Total albinism": very rare pathological manifestation, characterized by white or straw yellow hair, very white skin and blue or gray eyes.
- "Partial albinism": more frequent dysfunction, which affects only certain parts of the body, such as a limited area of the skin, a tuft of hair or the eyes.
- "Oculus cutaneous albinism": the disease is also generalized in the hair, skin and eyes, with an incidence frequency of 1: 35,000. In this case, melanin is no longer synthesized.
- "Ocular albinism": the melanic pigment is absent in the retina, consequently the subjects affected by this type of albinism have a lower number of diopters. It affects one in every 15,000 newborns.
Each of these pathologies corresponds to a given incidence in the population; to give a "statistical approximation, one person in 17,000 manifests a type of albinism.
Considering that this serious disease affects all ethnic groups and all animal species, albinism represents one of the most widespread pathological manifestations with genetic transmission, not only in the animal kingdom, but also in the plant one (considering that some cases have occurred of albinism also in flowers, petals, fruits and leaves).
Causes
Considering that albinism is a genetic disease, the triggering cause coincides with an alteration of the genes involved in the production of melanin; 11 genes involved in this delicate mechanism have been specified so far, and they appear to be associated with the tyrosinase enzyme. In order for an insufficient amount of melanin to be produced, or even to prevent the production of the pigment itself, it is sufficient that only one of these genes has a defect Strictly speaking, it is understandable how much the correct functioning of tyrosinase is essential for the production of the melanic pigment: the enzyme is mainly involved in oculocutaneous albinism.
If both parents are affected by albinism, the generated offspring will also manifest this pathology; despite this, the parents of most albino children exhibit regular skin, eye and hair pigmentation, and do not have a family history of albinism. In the latter case, a point mutation of the tyrosinase enzyme occurred in the offspring, so the organism no longer synthesizes melanin.
Physical effects
For further information: Albinism Symptoms
Incorrectly, only those subjects with very white skin, white hair and red eyes are considered albinos: in reality, despite these signs favoring the identification of people, it should be emphasized that the growth and functioning of the skin and hair are normal; what only the color changes, which fades from white to an almost normal color.
One of the most serious consequences for albino people is represented by the damage they can suffer as a result of "exposure to the sun (heliophobia): the skin, not being pigmented (or only partially), is devoid of natural protection. In healthy subjects, exposure to the sun enhances the production of melanin: the acquired tan acts as a “natural sun filter”, protecting the skin from light radiation. This does not occur in albino people: since melanin is not produced, the skin is not protected, and the risk of sunburn increases, increasing the predisposition to skin tumors.
The consequences deriving from the tyrosinase mutation also affect the eyes: during embryonic development and in the subsequent post-natal period, the right amount of melanin is not produced, or not at all, which causes damage to the eye and causes changes in the "iris, in the retina and in the optic nerves. Nystagmus (involuntary oscillation of the eyes, sometimes also associated with a slight movement of the head), strabismus and vision deficit, are possible effects derived from the albino pathology: their extent is proportional to the amount of melanin produced during the development of the eye.
In rare types of albinism, hearing and blood clotting may also present some disorders.
Psychological effects
People with albinism often have the perception of feeling sick, discriminated against and different from others: the social and psychological problems deriving from this pathology are very complicated. Suffice it to say that albino children often tend to isolate themselves from others: forced to continually answer embarrassing questions about their pathology, they are subjected to critical psychological stress. Even if the growth and physical development of the child are not compromised by albinism, the psychological repercussions of the disease should certainly not be underestimated. Among the natural remedies most used in the presence of brittle nails we remember the horsetail
