Albinism

=Albinism:=


 * __ Define and Explain your genetic disease __**
 * __ Introduction __**

Albinism, also called achromia is a congenital disorder which consists with the complete or partial absence of pigment in the skin, hair and eyes because of the lack of an enzyme which is in charge of the production of melanin (protein that gives skin pigmentation).

Individuals with Albinism, come from parents that have perfectly normal characteristics, and have the corresponding features to their ethnic background. Albinism can affect humans that come from all races. Albinism is associated with a large number of visual defects, which vary depending on the type of albinism disorder. Lack of skin pigmentation makes the skin of people with albinism very vulnerable to sun, making sunburns and skin cancer very common. This deficiency specially affects individuals which live in locations with large amounts of sunlight.


 * __ Symptoms __**

There are two principal types of albinism, oculocutaneous, affecting the eyes, skin and hair and ocular, which only affect the eyes (vision). Oculocutaneous albinos lack the enzyme which produces melanin or skin pigmentation, meaning that the pigments that create brown, black and yellow skin color are not present. Instead, oculocutaneous albinos are white or completely pale.

Ocular albinism affects the vision, resulting in pale blue eyes. Ocular albinism requires genetic testing to finally diagnose. Because individuals with albinism lack the pigment melanin which helps protect the skin from the sun’s ultraviolet rays, albino’s skin can burn easily for exposure to the rays. Usually, the human eye produces enough pigment to create the color in the iris. But, the albinos have no pigment in the eye. Therefore, their eyes appear to be red or purple. Lack of pigment, makes the red retina be visible through the iris, making the eye of an albino seem red or purple. Lack of pigmentation in the eyes also can result in vision difficulties, such as photosensitivity.

Health is not a problem in individuals suffering from albinism. They are generally as healthy as the normal population. Albinism does not affect growth, or development. It only affects the lack of pigmentation in the skin, creating cancer and other mortal diseases.

Overall, the main symptoms of Albinism are:
 * Absence of color in the hair, skin, or iris in the eye
 * Lighter than normal skin and hair
 * Patching, missing skin color
 * Lack of pigmentation in the eyes, making read retina visible

Visual Disabilities include:
 * Crossed eyes (strabismus)
 * Light sensitivity (photophobia)
 * Rapid eye movements (nystagmus)
 * Functional blindness

Today, there are several identified types of albinism, some of the most common being:
 * Ocular Albinism (OA) only affects the eyes, neither the skin nor hair. It results from an X linked chromosomal inheritance. It mostly affects male albinos
 * Oculocutaneous Albinism (OCA) affects the eyes, the skin and the hair. This type of albinism has various subtypes, like OCA type 1, type 2, type 3 and type 4
 * Hermansky-Pudlak Syndrome (HPS) is a rare and uncommon type of albinism which is normally seen amongst Puerto Rican citizens. Besides the normal symptoms (lack of skin pigmentation and visual problems) this type causes bleeding disorders, bruising, lung problems and intestinal disorders.


 * __Diagnosis __**
 * Albinism can be diagnosed by the observation of a mayority or complete absence of skin, eye or hair pigmentation related to the lack of production of melanin
 * An ophthalmologist should conduct a complete examination of the eye of an individual suffering from the disorder
 * An electroretinogram exam should be done to determine brain waves which reveal ocular forms of albinism
 * Chemical testing of the hair determines lack of pigmentation or other symptoms that relate to albinism
 * The hair bulb pigmentation test, used to identify individuals that carry the disease, is done by incubating a piece of the carrier’s hair in a solution of tyrosine, an amino acid the body utilizes for the production of melanin. If the hair turns dark, it means the hair produces melanin. Pale hair means there is no production of melanin
 * The most accurate way to determine any type of albinism is genetic testing. Genetic testing determines the mutated genes which carries the disorder


 * __Treatment __**
 * Trying to evade extreme sun expose using sunscreen and protective clothing
 * Protecting eyes using special sunglasses
 * Correcting visual problems by annually doing a visual examination
 * Annual skin examination to prevent cancer or other cancer related skin diseases


 * __Explain how you genetic disease occurs – gene or chromosomal mutation __**

Albinism occurs because of the mutation of one of many genes. This mutated gene provides chemically coded instructions to produce one of several proteins which are essential for the creation of melanin. Albinos, lack a cell called melancyotes which is in charge of producing melanin and are found in your skin and eyes. This genetic mutation may result in no production of melanin, or a significant decrease of amount of melanin in your body. In order for an individual to have albinism, this individual must inherit two copies of this mutated gene, which are carried by both parents (this is called recessive inheritance). In most occasions, if only one of the parents contains the copy of this mutated gene, their offspring will not have the disease. But, there are rare types of albinism where only one copy of the mutated gene is needed for the disorder to surge. This genetic mutation most commonly impacts the eye development. Regardless of which type of gene mutation surges, vision disability is a common characteristic. Irregular development of the nerve pathways from the eye to the brain caused by an abnormal development of the retina, cause this vision impairment. The mutated gene usually creates the two most common types of albinism, oculocutaneous and ocular albinism:


 * Oculocutaneous Albinism **

The genes for oculocutaneous (OCA) are located on “autosomal” chromosomes. Autosomes are the chromosomes that contain genes for out general body characteristics, contrasted to the sex chromosomes. Normally, humans have two copies of autosomes and the genes encountered on them; one inherited by the father and mother. Neither of these gene copies is functional in people with albinism. But, albinism is a recessive trait, so even if one of the parents have a functional OCA gene, the child can have skin pigmentation, but still carry traits from albinism. Both parents need to carry an abnormal OCA gene to have a child with albinism. When both parents carry the defective gene (and neither suffers from albinism) there is a one in four chance that the baby will be born with albinism. This type of inheritance is called “autosomal recessive inheritance”. Regarding the types of OCA, OCA type 1 is caused by a mutation of a gene located in chromosome 11, which results on milky white skin, white hair, and pale blue eyes. OCA type 2 is caused by mutations of a gene located in chromosome 15, which is common in African and Native Americans. This type makes the hair be yellow, ginger or red and the eyes can be blue ray or tan. OCA type 3 (the rarest type of OCA) is a gene mutation in chromosome 9. The characteristics of this type of OCA are identified in black South Africans. They include reddish-brown skin, ginger or reddish hair and hazel eyes. Finally, OCA type 4 is a gene mutation that occurs in chromosome 5, which has characteristics very similar on those from type 2.


 * Ocular Albinism **

Ocular albinism (OA) is caused by a genetic mutation of the GPR143 gene that works as a signal which is especially important for iris pigmentation. OA follows a simple pattern of inheritance because of the fact that the mutated gene for OA is located on the X chromosome (one of the two sex determining chromosomes). Females contain two copies of the X chromosome. Males contain one copy and the other sex chromosome (Y), which determines them as males. For ocular albinism to occur, a male only needs to inherit one mutated gene for OCA from his carrier mother. Hence, most people with OA are males. It is rare for a female child to have ocular albinism.


 * __<span style="font-family: Calibri,sans-serif; font-size: 14pt;">Explain the benefits and limitations of your genetic disease __**


 * __<span style="font-family: Calibri,sans-serif; font-size: 14pt;">Benefits __**
 * <span style="font-family: Calibri,sans-serif; font-size: 14pt;">It is easy to recognize an individual which suffers with this genetic mutation because of their lack of pigmentation regarding the skin, hair and eye, specially the iris.
 * <span style="font-family: Calibri,sans-serif; font-size: 14pt;">Albinism is easy to recognize because of the fact that the mutated gene carried from one or both parents is easy to identify. Also, if your family has a history of albinism, then it is probable that you will inherit the disease and it will help further diagnosis.
 * <span style="font-family: Calibri,sans-serif; font-size: 14pt;">The treatment (which is utilized to prevent the disease from further advancement) is easy to apply because of the fact that the treatment consists on the utilization of daily protection products, including sun screen and special sun glasses, which protects these individuals from the UV rays the sun emits.
 * <span style="font-family: Calibri,sans-serif; font-size: 14pt;">Individuals with albinism do not have to worry of short term life expectancy, but they have to be careful because diseases that surge from the symptoms may cause death.
 * <span style="font-family: Calibri,sans-serif; font-size: 14pt;">If one of the parents is a carrier of the genetic mutation, then it is very difficult for the offspring to inherit the disease.


 * __<span style="font-family: Calibri,sans-serif; font-size: 14pt;">Limitations __**
 * <span style="font-family: Calibri,sans-serif; font-size: 14pt;">If not treated properly, albinism may lead to some mortal diseases. For example, lack of skin pigmentation makes the skin vulnerable to UV rays. Therefore, extreme sun exposure may cause skin problems, like cancer. Also, not taking care of the eyes (especially in the iris) may lead to infections or blindness.
 * <span style="font-family: Calibri,sans-serif; font-size: 14pt;">Actually, there is no cure for albinism. Scientists are experimenting with specific mutated genes. The only way to prevent this disease to getting worse and partially curing it is to follow the treatment requirements.
 * <span style="font-family: Calibri,sans-serif; font-size: 14pt;">Diagnosing and treating this disorder is not easy because of the fact that there are a large variety of types of albinism, most of them different in intensity and symptoms. Some types are very rare and difficult to diagnose, like for example the Hermansk Pudlak syndrome.
 * <span style="font-family: Calibri,sans-serif; font-size: 14pt;">If both parents are carriers of the mutated gene, it is very probable that the offspring will contain this disorder.


 * __<span style="font-family: Calibri,sans-serif; font-size: 14pt;">Discuss how social, economical, cultural and ethical issues that are associated with the disease __**


 * __<span style="font-family: Calibri,sans-serif; font-size: 14pt;">Social __**

<span style="font-family: Calibri,sans-serif; font-size: 14pt;">Society’s effect on individuals with albinism has a very harsh influence on the person suffering from this disorder. Not only do they have to cope with various treatments, but with the impact of the society surrounding them. Albinos have faced the social challenge of discrimination, ridicule and in the most harsh cases fear or violence. Coping with not only themselves but with society is essential for an individual with albinism. Not learning to cope with society might cause isolation or severe decreases in self esteem in confidence. There are four influences from society that may substantially affect a person with albinism. Primarily, society sometimes considers the disease to be a disability, making people with albinism difficult to identify themselves in a normal social group. Secondly, the physical aspect of people suffering from albinism. Society judges albinos because of their unusual and different physical characteristics. Their pale hair, pale skin and pale eyes, make them look from another universe. The truth is that albinos are exactly the same as normal society in the inside, and we have to learn to accept them even though they have physical differences. Thirdly, albinism is a stereotype included in several films or other types of media. In several movies the albino is mostly the bad guy or strange individual that is insane. This makes the youth society depict albinism as something evil or strange. Finally, the most important influence is family. The family society has to teach the individual with the disorder to cope with the society surrounding them, teach them skills to gain self esteem and confidence and give overall help and support. Overall, society has a harsh effect on albinism, and individuals with the disease need to learn to cope and live with the people surrounding them.


 * __<span style="font-family: Calibri,sans-serif; font-size: 14pt;">Cultural __**

<span style="font-family: Calibri,sans-serif; font-size: 14pt;">In the world, there exist several different types of culture. Some cultures are diverse, and are not racist and have common beliefs. Other cultures, discrimination certain skin colors because of their religious believes. Culture drastically affects albinism in several ways. An example takes us all the way to African countries Tanzania and Burundi. The African population assassinate young albinos because they think they are results of witchcrafts or are demons. Their body parts, are sold from witchdoctors, because they have value for individuals that believe in witchcraft. An example of these assassinations occurs in Tanzania September 2009. Three men were convicted of killing a 14 year old albino boy and selling his body parts for witchcraft purposes. This problem is continuing to happen, and the government is starting to take action. Another harsh believe some people from specific cultures have is that having intercourse with a female albino will cure HIV. In Zimbabwe, this belief has lead to several rapes and subsequent HIV infections.

Works Cited

"Albinism." //Wikipedia//. Wikimedia Foundation, 03 Dec. 2012. Web. 13 Mar. 2012. <http://en.wikipedia.org/wiki/Albinism>. "Albinism." //Wikipedia//. Wikimedia Foundation, 03 Dec. 2012. Web. 13 Mar. 2012. <http://en.wikipedia.org/wiki/Albinism>. "KidsHealth." //Albinism//. Web. 13 Mar. 2012. <http://kidshealth.org/kid/health_problems/skin/albinism.html>. "What Causes Albinism?: Scientific American." //Science News, Articles and Information//. Web. 13 Mar. 2012. <http://www.scientificamerican.com/article.cfm?id=killing-albinos-tanzania-albinism>. "What Is Albinism?" //NOAH â//. NOAH. Web. 13 Mar. 2012. <http://www.albinism.org/publications/what_is_albinism.html>.