Albinism Research Paper
Running Head: ALBINISM
ALBINISM
Ivy Tech
ANP 101
July 9, 2008
What is Albinism?
Albinism is a hereditary disorder, which results in little or no production of the pigment melanin. The disorder is not an infectious disease and cannot be transmitted through contact, blood transfusions, or other means. Albinism is usually, but not always, apparent in a person’s skin, hair and eyes. The most recognizable form (called oculocutaneous albinism or OCA), results in milky white skin, white hair and white or pink irises. There are various forms of albinism and the amount of pigment present varies with each type. Some patients only have slightly lighter pigmentation than those in their family, which leaves the disorder unrecognized. One person in 17,000 in the United States has some type of albinism. The disorder shows no racial boundaries and affects people from all ethnic groups. Most children with albinism are born to parents who have normal hair and eye color for their racial backgrounds. Regardless of the severity of albinism a person has, all forms are linked to vision problems. People with X-linked ocular albinism, only have vision problems and their skin, hair and eye color are normal for his or her family. However, this report will concentrate solely on OCA and the affect it has on the integumentary system.
Causes The cause of albinism is a mutation in one of several genes in a person’s DNA. Each of these genes provides the chemically coded instructions for producing one of several proteins involved in the production of melanin. Melanin is produced in the skin and is a “polymer made of tyrosinase amino acids…and its synthesis depends on an enzyme in melanocytes called tyrosinase” (Marieb, 2007, p.157). When there is a defect in tyrosinase, it cannot metabolize tyrosine properly, reducing or eliminating the production of melanin. Most forms of albinism are the result of the biological inheritance of genetically
ALBINISM
Ivy Tech
ANP 101
July 9, 2008
What is Albinism?
Albinism is a hereditary disorder, which results in little or no production of the pigment melanin. The disorder is not an infectious disease and cannot be transmitted through contact, blood transfusions, or other means. Albinism is usually, but not always, apparent in a person’s skin, hair and eyes. The most recognizable form (called oculocutaneous albinism or OCA), results in milky white skin, white hair and white or pink irises. There are various forms of albinism and the amount of pigment present varies with each type. Some patients only have slightly lighter pigmentation than those in their family, which leaves the disorder unrecognized. One person in 17,000 in the United States has some type of albinism. The disorder shows no racial boundaries and affects people from all ethnic groups. Most children with albinism are born to parents who have normal hair and eye color for their racial backgrounds. Regardless of the severity of albinism a person has, all forms are linked to vision problems. People with X-linked ocular albinism, only have vision problems and their skin, hair and eye color are normal for his or her family. However, this report will concentrate solely on OCA and the affect it has on the integumentary system.
Causes The cause of albinism is a mutation in one of several genes in a person’s DNA. Each of these genes provides the chemically coded instructions for producing one of several proteins involved in the production of melanin. Melanin is produced in the skin and is a “polymer made of tyrosinase amino acids…and its synthesis depends on an enzyme in melanocytes called tyrosinase” (Marieb, 2007, p.157). When there is a defect in tyrosinase, it cannot metabolize tyrosine properly, reducing or eliminating the production of melanin. Most forms of albinism are the result of the biological inheritance of genetically
References: Boissy, Raymond E., Nordlund, James J. et al. (2007), "Albinism". eMedicine. 22 August 2005. BookRags Staff. (2005). Albinism, Retrieved June 29, 2008 from the world wide web: http://www.bookrags.com/research/albinism-wog/ Marieb, E., Hoehn, K. (2007). Human Anatomy & Physiology (7th ed.). San Francisco: Pearson Education, Inc. Mayoclinic. (2007 April, 6). Albinism, Retrieved June 24, 2008 from the world wide web: http://mayoclinic.com/healt/albinism/DS00941 NOAH. (2007). What is Albinism?, Retrieved June 24, 2008 from the world wide web: http://www.albinism.org/publications/what_is_albinism.html