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Albinism
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Albinism is passed from parents to their children through genes. For most types of albinism, both parents must carry an albinism gene to have a child with albinism. Parents may have normal pigmentation but still carry the gene. When both parents carry the gene, and neither parent has albinism, there is a one-in-four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called autosomal recessive inheritance.
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Albinism and piebaldism can be found in humans of all races although these are probably most startling when they occur in dark-skinned people. The naturalist George le Clerc Buffon described and illustrated albino and piebald humans in his Natural Histories (1777). The following text is taken from "Anomalies and Curiosities of Medicine" by George M Gould and Walter L Pyle, published in 1896 (the language and terms used are therefore archaic). The illustrations are mostly taken from Gould & Pyle and from Buffon.
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NOAH, the National Organization of Albinism and Hypopigmention (NOAH) is a wonderful resource for information on albinism. They have handouts on all aspects of albinism and offer periodic national meetings that serve both as educational experiences and ... an opportunity for individuals with albinism and their families to meet.
Albinism does not cause mental impairment or developmental delay. Individuals with albinism pursue a wide range of career; their options are limited only by their visual impairment. A child or an adult with albinism who has developmental problems must be evaluated for another cause of these problems, because developmental delays of problems are not expected with albinism.
Albinism has been linked in rare cases with systemic diseases. The most common is Hermansky-Pudlak Syndrome (HPS). HPS occurs throughout the world, but is most commonly associated with patients of Puerto Rican descent. Abnormalities of the granules in the blood platelets cause a bleeding disorder and an accumulation of a chemical called ceroid. Lung and gastrointestinal problems may develop including the inability to fully expand the lungs and colitis. To diagnose HPS, the electron microscope must be used to examine the blood platelets.
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The growth and development of a child with Albinism is usually normal. Intellectual development is normal and children with Albinism attend mainstream schools, albeit with extra assistance to overcome their visual impairment. Life span is normal.
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