Albinism is a hereditary condition/congenital disorder which is inherited, and it reduces the amount of melanin pigment formed in the skin, hair and eyes. Albinism is associated with several vision defects, such as nystagmus, photophobia and amblyopia. Albinism may occur in all in all racial/ethnic groups throughout the world. According to the (NOAH) National Organization for Albinism and Hypopigmentation, in the United States, approximately one person in eighteen thousand to twenty thousand people has been observed to have some albinism. The occurrence can be as high as one in three thousand in the in other parts of the world. Most of the children with albinism are born to those parents whose eye and hair colour are typical for their ethnic backgrounds. It is not a preventable condition as it is genetically transferred.
Albinism and Autosomal recessive disorder
- Do you know tha most types of albinism result from inheriting an albinism trait from both the father and the mother (Autosomal recessive) who often have typical pigmentation?
- Under this condition, the mother and father are the carriers of the albinism trait because they each carry a recessive gene for the disease. There is no cure for albinism as a lack of skin pigmentation makes more susceptibility to sunburns.
- In tropical countries like India, all people with albinism may not have access to adequate skin protection & may develop life-threatening skin cancers.
- If they use appropriate skin protection, such as sunscreens rated 30 SPF or higher and dark clothing, people with albinism can do outdoor activities.
- UV protective eyewear is essential to prevent eye complications and reduce photophobia. Some people may require surgery for ‘cross-eyes’ or strabismus. Almost all need glasses for refractive errors.
Effect of albinism on humans
People with albinism may on occasions face isolation because the condition is often misunderstood. Social stigmatization can occur, especially in Indian sub-continent, where the race or paternity of a person with albinism may be questioned. Families and schools play an essential role in making the child feel comfortable and confident, must attempt to include children with albinism in group activities. Contact with other people in the community or family who have albinism is helpful.
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Albinism Study
As per NOAH, DNA tests can determine the precise type of albinism. However, the research on albinism genes is open-ended. To date as many as 7 forms of oculocutaneous albinism are now recognized – OCA1, OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. In albinism, most people may have very light skin and hair; however, the level of pigmentation can vary because of one’s type of albinism. One example of albinism is Oculocutaneous albinism (OCA), which involves eyes, hair and skin. Another type is Ocular albinism (OA). OA is much less common, and it requires only the eyes, while skin and hair may appear similar to the other family members or slighter lighter than theirs.
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International albinism awareness day
The international albinism awareness day is celebrated on 13th June every year. It is dedicated to bringing more awareness among the general population about this condition and works like a liaising platform for various organizations working for the welfare of people with albinism. Discrimination, violence and abuse of patients with albinism is prevalent, and we can make people with albinism join the mainstream to increase tolerance and acceptance.
(Source: https://www.albinism.org/information-bulletin-what-is-albinism/)
(Medically reviewed by Dr Sachin Dhawan, Senior Consultant, Department of Dermatology, Fortis Memorial Research Institute, Gurugram)
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