Albinism is a hereditary defect that alters the production and metabolism of melanin, which results in a total or partial absence of this pigment produced by cells called melanocytes and which is responsible for the color of the skin, hair and eyes.

The pattern of inheritance of albinism is autosomal recessive, which means that the probability of the disorder being transmitted from one generation to another is low.

Those affected by albinism are called albinos and lack pigments in the hair, skin or iris of the eye. The lack of pigmentation of the skin makes albinos more susceptible to sunburn and skin cancer. And is that the fundamental physiological role of melanin is to protect the skin from the harmful effects of ultraviolet light, which is why people who live near the tropics are darker, since their exposure to the sun is greater, in comparison with people who live in temperate climates. Albinism causes social rejection and, what is worse, the albinos or, rather, some parts of their body, such as blood, bones, or organs, are considered in some African countries amulets against the ‘evil eye’.

There are several types of albinism depending on the following affectations or not of the skin:

• Oculo-cutaneous albinism: it is the most frequent and affects the skin, eyes and hair.
• Ocular albinism: affecting only the eyes.

According to the defect of the enzyme involved in melanogenesis.

• Oculo-cutaneous albinism type 1: it is due to a tyrosinase enzyme genetic defect. There are two subtypes of this form of albinism: Subtype 1A: it is the most frequent and severe form of albinism. Subtype 1B: the enzyme is minimally active and a small amount of melanin is produced.
• Oculo-cutaneous albinism type 2: involvement of the P gene that results in a defective P protein.
• Oculo-cutaneous albinism type 3: it has rarely been described and results from a genetic defect in TYRP1.
• Oculo-cutaneous albinism type 4: results from a genetic defect in the SLC45A2 protein.
• Oculo-cutaneous albinism with systemic manifestations: it is also called Hermansky-Pudlak syndrome

The severity of symptoms and clinical problems associated with albinism varies from one individual to another, depending on the type of genetic defect they suffer.

There is no known way to prevent albinism

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

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