Albinism is a genetic condition in which a person lacks the gene for producing melanin – the pigment that protects the skin from ultraviolet light from the sun. Persons with albinism (PWAs) may lack pigmentation in the skin, eyes and hair. The gene that carries albinism is a recessive gene or a gene that it is not dominant. The recessive gene for albinism becomes expressed only when two parents carrying the recessive genes pass them to the child. The albinism gene may ‘hibernate’ for generations only to spring back when a child who carries the recessive genes is born. There are several classes, types and sub-types of albinism defined by level of lack of melanin and body parts affected. There are two types of albinism, which include; Ocular (i.e. eyes) and Oculocutaneous (i.e. hair, skin and eyes)
What draws more attention to albinism, at least initially, is the unusual appearance of a person. The white hair and skin of oculocutaneous albinism is a powerful factor from the moment of birth. The new baby will often be much lighter in colour than any family member. In non-white races the colouring of the baby with albinism is a dramatic contrast to the family and community. Colour is a highly-charged characteristic in our culture now and historically. Strangers will often make unwanted and unkind comments about the appearance of a child.
Beyond colour, a child’s eyes may be moving rapidly and not focusing together. The child may have to squint, tilt his or her head, and hold things close in order to see. Contact lenses, glasses, and optical aids are used to enhance vision but not a solution to their visual impairment. Thus, the person with albinism often feels isolated not only in physical appearance but also in the conduct of everyday life.
Albinism is found in all races and in all animals. It is estimated that there are 2 million persons with albinism in Nigeria. Although, there is no known statistical or demographic data on persons with albinism in Nigeria. However, from the survey conducted by the foundation and funded by UNICEF, Nigeria Office on Knowledge, Attitude and Practices (KAP) on children with albinism in Nigeria, it was estimated that about 40% of persons with albinism in Nigeria are children while 35% are female and 25% are male (adults). Albinism is found in all cultures in Nigeria and myths, stigma and discrimination differs from culture to culture. It is a taboo to find a person with albinism in some communities in Nigeria. If a person with albinism lays his/her foot in the community, he or she will be killed.
This perception of being different can lead to an immense effort to act as much like “normal” as possible. Pressure comes from within and outside to minimize the differences caused by albinism. This effort can result in a great deal of stress for a person continually trying to maximize visual ability. It can result in denying altogether that one has albinism and losing touch with a very important part of one’s self.
The sub-types of albinism include:
OCA1 is due to a defect in the tyrosinase enzyme. There are two subtypes of OCA1.
OCA1a: People with OCA1a have a complete absence of melanin, the pigment that gives skin, eyes, and hair their coloring. People with this subtype have white hair, very pale skin, and light eyes.
OCA1b: People with OCA1b produce some melanin. They have light-colored skin, hair, and eyes. Their coloring may increase as they age.
OCA2 is less severe than OCA1. It’s due to a defect in the OCA2 gene that results in reduced melanin production. People with OCA2 are born with light coloring skin, and their hair may be yellow, blond, or light brown. OCA2 is most common in Sub-Saharan Africans, African Americans, and Native Americans.
OCA3 is a defect in the TYRP1 gene. It usually affects dark-skinned people, particularly black South Africans. People with OCA3 have reddish-brown skin, reddish hair, and hazel or brown eyes.
OCA4 is due to a defect in the SLC45A2 protein. It results in a minimal production of melanin and commonly appears in people of East Asian descent. People with OCA4 have symptoms similar to those in people with OCA2.