Question: Albinism is caused by the absence of what pigment in the skin?
Show answer
Melanin.
Albinism is a genetic condition characterized by the absence of melanin, the pigment responsible for coloring the skin, hair, and eyes. This lack of melanin results from mutations in one of several genes involved in the production of melanin within the melanocytes, the cells in the skin and eyes that produce this pigment. The specific type of albinism a person has is determined by which gene is affected; these genes are involved in various aspects of melanin production, including its synthesis, distribution, and regulation.
Melanin serves several critical functions in the human body, most notably protecting the skin against UV radiation from the sun. It absorbs and dissipates sunlight, thereby preventing DNA damage that can lead to skin cancers. Melanin is also essential for the normal development of the eyes and the optic nerves, so its absence or reduced presence affects not just skin color but also vision.
Individuals with albinism often appear very pale with white or light blonde hair and light-colored eyes, although the exact appearance can vary significantly depending on the type of albinism. There are several forms of the condition, including oculocutaneous albinism (OCA), which affects the hair, skin, and eyes, and ocular albinism (OA), which mainly affects the eyes, while the skin and hair might appear similar or slightly lighter than those of other family members.
People with albinism are more susceptible to sunburn and skin cancers due to the lack of melanin. Consequently, they need to take extra precautions when exposed to sunlight, such as wearing sunscreen with a high SPF, using hats or clothing to cover the skin, and avoiding direct sunlight during peak sun hours.
Vision problems are also common in people with albinism. These can include issues like photophobia (sensitivity to light), nystagmus (involuntary eye movements), strabismus (crossed eyes), and astigmatism, which can lead to impaired vision or blindness. Regular eye exams and appropriate corrective measures, such as glasses or contact lenses, are essential for managing these complications.
Albinism is an inherited condition, meaning it is passed down through families. An autosomal recessive inheritance pattern characterizes most types of albinism, which means that both parents must carry the gene mutation for their child to be affected. Genetic counseling can provide families with information about the risks of passing the condition to future generations.
The challenges faced by individuals with albinism go beyond the physical. In many parts of the world, particularly in some regions of Africa, there is significant stigma and superstition surrounding the condition. This can lead to social isolation, discrimination, and even violence. Raising awareness and advocating for the rights and inclusion of people with albinism are essential for addressing these social issues and supporting affected individuals and their families.
