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Facts About Albinism

Ningthoujam Sandhyarani
People with albinism usually have light color skin and hair, with impaired vision. However, the skin and hair color of each individual with albinism vary, depending upon the amount of pigment present. Here are some albinism facts.

What is Albinism?

Albinism is a hypopigmentary genetic disorder, caused due to the lack of the melanin pigment. It is also referred to as achromia or achromatosis. It is estimated, that about one in 70 people carry a recessive gene for albinism, and about 1 in every 17,000 people have albinism disorder. Albinism occurs equally, in both the genders.
According to the MediLexicon medical dictionary, albinism is defined as;

"A group of inherited (usually autosomal recessive) disorders with deficiency or absence of pigment in the skin, hair, and eyes, or eyes only, resulting from an abnormality in melanin production."

General Facts

  • The term 'albinism' is derived from the Latin word 'Albus', which means 'white'.
  • The oldest records of albinism were found in Germany and Rome.
  • Aulus Gellius and Plinius Secundus the Elder were the first observers of Albinism.
  • The first to consider albinism as a sickness was Archibald Garrod. He carried out a research in 1908, only to find out that albinism-affected people had very fair (white) skin and hair.
  • Some people with albinism have deep yellow or red hair. Their eyes can be blue, brown or reddish.
  • There are two types of albinism - Oculocutaneous Albinism and Ocular Albinism.
  • Albinism does not affect the life span of a person, in fact, people affected by albinism tend to live longer.
  • An individual having albinism may express hypomelanism (partial lack of melanin) or amelanism (total lack of melanin) of the skin, hair and eyes.
  • Genetic testing is the only diagnostic technique for confirmation of albinism.
  • Albinism is not contagious, nor can it be transferred from person to person through blood transfusion, dermal contact, or via vector (pathogen carrying organism), etc.
  • Albinism is most common in African-Americans.
  • Every albino need not necessarily have white skin.
  • Albinos that lack pigmentation completely, lack the enzyme called tyrosinase.
  • The growth and development of a person with albinism is the same as that of a normal individual.
  • It is a misconception that a person with albinism is sterile.

Causes of Albinism

  • Albinism is caused due to the inheritance of recessive alleles (alternative form of gene), either from a single parent (very rare) or from both the parents.
  • If both the parents have the albino gene, the child is more susceptible to albinism.
  • If not albinism, the child is more likely to at least have an abnormal gene.
  • There is also a possibility that two non-albinistic parents have an albinistic offspring.
  • In this case, the parents are carriers of the albinism gene (the character or trait is not expressed).
  • In rare cases, albinism is caused due to gene mutations.
  • Whatever may be the reason, the presence of the altered gene prevents the body from synthesizing the normal amount of melanin pigment.

Effects

  • Since an albinistic person lacks the photoprotective pigment, melanin, he/she is more susceptible to sunburn.
  • Though lack of melanin increases the risk of skin cancer (if proper care is not taken), it does not cause mortality.
  • Albinos generally suffer from an uncontrollable movement of the eyeballs called nystagmus, photophobia (sensitivity to bright light) and strabismus (misalignment of eye).
  • Since the melanin pigment is essential for full development of the retina, an albinistic person usually has eye problems due to abnormal development of the retina.
  • Most albinos have thin hair, hence dying or coloring the hair might not be a good idea.

Oculocutaneous and Ocular Albinism

  • Oculocutaneous albinism affects the eyes, skin and hair of the person, whereas, ocular albinism affects only the eyes.
  • Some of the common eye problems are refractive errors (myopia, hypermetropia, astigmatism), photophobia (sensitivity to bright light), nystagmus (rapid movement of the eye), and strabismus (misalignment of the eyes).
  • Oculocutaneous albinism is caused by mutation on chromosome 11, while ocular albinism is caused by mutation on chromosome 15.
  • Albinos face optical problems because their nerve fibers in the brain do not cross properly. Many of them are connected to the wrong side while some connect to the same side, from which they emerge.

Treatments

  • There is no known treatment for albinism yet, however, there are certain treatments for improving the quality of life of an albino.
  • Eye problems can be treated through less exposure to light, by using lenses, or by going for a surgery.
One of the astonishing facts is, that not only humans, but plants and animals also suffer from albinism. Albinism in plants and animals is caused due the lack of pigment (color). Mentioned below, are a few interesting facts about albinism in plants and animals.

Albinism in Plants and Animals

  • Since albino plants lack the photosynthetic pigment, chlorophyll, they usually have a short life (less than 10 days).
  • In case of animals, albinism is not fatal. However, albino animals may face problems of vision, making it difficult for them to hunt for food and protect themselves from danger.

  • Hence, survival rate may be less than a normal animal of the same species.
  • Albino animals like the Himalayan rabbit, Siamese cat, white tigers, etc., are famous for their distinct color.
  • These animals are usually docile and are therefore preferred in laboratories, due to the same reason.
  • They do not respond to drugs or alcohol, while pigmented animals do.
The best way of preventing albinism is through genetic counseling. As albinism is something that can be inherited, if you have a family history of hypo-pigmentation or albinism, consult a genetic counselor.