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Albinism

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Albinism

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  1. Albinism Britany Garcia

  2. What is Albinism? Albinism is lack of pigment in the eyes, skin, or hair. While there are different types of albinism, many people with albinism are visually impaired and, in some cases, are legally blind. Individuals with albinism are sensitive to bright light and glare and often have other vision problems.

  3. Alternative Names • Hermansky-Pudlak syndrome • Albinoid • Albinic • Albino • OCA

  4. Types of Albinism Oculocutaneous Albinism Ocular albinism • Latin-derived named meaning eye and skin • Pigment lacks in skin and eyes • Ranges from no pigment in skin to almost normal skin colors. • In non- humans mutations derive from lack of melanin in fur, scales, or feathers • Inherited when parents of individual both carry copy of mutated but do not show signs of symptoms • Only the eyes lack pigment • People with ocular albinism generally have normal skin and hair color but have lighter skin than both parents • Many have normal eye appearance • Generally sex-linked, therefore men are more likely to be affected • Are w/o another X chromosome to mask recessive alleles on the X they inherit

  5. Who is most likely to get this disorder? • Humans, animals, and even plants can have albinism. • Generally sex-linked, therefore men are more likely to be affected • Are w/o another X chromosome to mask recessive alleles on the X they inherit • Albinism can affect people of all races

  6. Symptoms • Both parents must carry the albinism gene in order to have a child with albinism. • Eyes and Skin do not function properly • Appearance wise: • Extremely light skin color. • Light or white colored hair. • Light eye color, sometimes appearing pink. • High susceptibility to sunburn and skin cancer. • Vision problems.

  7. Is it common? • 1 in 20,000 people worldwide are born with oculocutaneous albinism • The condition affects people in many ethnic groups and geographical regions.

  8. Is it deadly? Will it shorten lifespan? • It will shorten lifespan due to lung dieses and bleeding problems. • It is deadly due to the rare lung dieses linked to it

  9. Treatments • There is no cure for albinism. • Treatment only delays symptoms such as: • Sunscreen • Preventsskinagingorskincancer. • Special UV-proof clothing and swimsuits. • Eye Rehabilation • Glasses • Bifocal Glasses

  10. Support Groups • The National Organization for Albinism and HypopigmentationPO Box 959, East Hampstead, NH 03826-0959Phone: 800 473-2310 (US and Canada) Phone: 603 887-2310 Fax: 800-648-2310 • If you think you are an albino please call now.

  11. Can you be tested for it? • Diagnosis of Albinism is straightforward and involves clinical examination and a few blood tests. • Albinism can be diagnosed by observation of major or total absence of pigmentation of the appearance of the skin, hair, and eyes. • Recently, a blood test has been developed that can identify carriers of the gene for some types of albinism.

  12. Interesting facts • Albinism is caused due to inheritance of recessive alleles , either from a single parent (very rare) or from both the parents. • Also caused by Genetic mutations • Dominant • The altered gene prevents the body from synthesizing the normal amount of melanin pigment. • Possibility that two non-albinistic parents have an albinistic offspring. • The parents are carriers of albinism gene.

  13. Karyotype

  14. Okay Bye.