Thursday, July 5

Facts and information about albinism disorder

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Albinism disorder in fact is not a disease and albinos have an inherited condition in which little or no pigment is produced by the body, affecting the color of their skin, eyes and hair.
In albinism, the genetic information and gene expression are altered and the required amount of melanin pigment is not produced, sometimes with debilitating health and vision issues. In fact, the prevalence of this genetic disorder is approximately one individual for every seventeen thousand individuals.

Albinism affects individuals of all racial and ethnic backgrounds. Except for ocular type all other types affect both men and women equally. In fact most of the children with albinism have normal parents. Albinism is caused by inheriting recessive genes from both the parents in oculocutaneous type and from mother in ocular type.
Image - Horizontal nystagmus
Albinism vision problems

Facts about types of albinism

As albinism may involve different genes, there are different types.
In oculocutaneous albinism (OCA) pigmentation of the skin, hair and eyes is affected. There are subtypes like OCA1, OCA2, OCA3, and OCA4. The pigmentation ranges from near lack of it to slight amount of pigmentation.
Ocular albinism (OA) is a rare type wherein only the pigment in the eyes is affected. In fact the affected person has skin and hair coloration similar or slightly lighter than that of his ethinicity. This type is linked to X-chromosome affecting only boys and is passed on from mother to son.
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder which results in oculocutaneous albinism and bleeding problems due to a platelet abnormality.
Griscelli syndrome is a rare autosomal recessive disorder characterized by hypopigmentation with immunodeficiency.
Ch├ędiak–Higashi syndrome is a rare autosomal recessive disorder which results in recurrent infections, partial albinism and peripheral neuropathy.

Facts about vision issues

Depending upon the form, albinos have various degrees of vision impairment. Some affected persons may be nearly blind whereas some may be able to even drive a vehicle.
There are varying degrees of impairment in the development of retina of the affected persons. Further there is impairment in the nerve connection between eye and brain.
Some of the vision problems of affected people are astigmatism (blurred vision), photophobia (eye sensitivity to light and glare), near-sightedness, far-sightedness, nystagmus and crossed eyes.

Facts about health issues

But for vision problems, affected persons lead a normal life and have an average life span. Persons with oculocutaneous type have very little pigment on the skin and can suffer sunburns easily. Proper sun protection in the form sunscreen creams, hats and clothing is necessary. They are also easily affected by UV sunlight and are prone to skin cancer as they lack protective melanin pigment. Persons affected by Hermansky-Pudlak, Griscelli Syndrome or Chediak-Higashi syndrome have other health issues like bleeding, neuropathy and immunodeficiency and their life stye and life span may be severely affected.

Facts about social issues

In many regions of the world, people mistake the skin coloration of albinos for a contagious infection and stigmatize the affected people. Even their paternity and ethinicity are questioned. It is very necessary to educate their neighbors and school-mates about the facts of albinism to overcome stimatization. In fact in some parts of Africa violence is perpetuated on albinos based on witchcraft tales, beliefs and cures.
Topic of interest:
Albinism types and their genetic causes

Image credit: (CC BY-SA 3.0)

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