Albinism As A Genetic Disease

Many people are affected by genetic disorders every day. Abnormalities in one’s DNA are what cause a genetic disorder. These disorders could be as little as a mutation in a single gene. In another case, they could be as severe as having an extra chromosome, or taking away a chromosome.

What is a genetic disorder? A genetic disorder is a disease Inherited medical condition caused by DNA abnormality. The genetic disorder is caused by change or mutation. The name of this disorder is called autism. Developmental Screening and Comprehensive Diagnostic Evaluation is two types of how it gets diagnosed.

Oculocutaneous Albinism abbreviated as OCA, commonly referred to as just albinism. OCA is supposedly one of the oldest mutations ever recorded in human history and described in 1908 by a man of the name Garrod. DO THESISI OR WHATEVER

There are numerous signs and symptoms when regarding albinism. For example, symptoms of albinism include skin color than can range from white to brown. For some, skin pigmentation does not change, whereas for others, melanin production could increase during their early years, causing minimal changes in pigmentation. Some may develop freckles, moles that could be pink, lentigines, and the ability to tan if they are exposed to the sun. Hair color can consist of yellow, reddish, or brown, and may darken by early adulthood, and eye color may be light blue to brown and may change with age.

A genetic disease is any disease or disorder that is caused by mutations in one or more genes. These diseases have the potential to be nonthreatening or extremely lethal. A genetic disease known as Marfan syndrome rests somewhere in between. Marfan syndrome is a disease of connective tissues. This disorder falls under the category of single gene inheritance, meaning that the DNA structure of only one gene is altered. Although only one gene is altered, the results of inheriting Marfan syndrome can display a wide variety of health issues.

Albinism, also known as Achromasia, is a genetic disease that affects the integumentary system and the visual system. Albinism makes the body unable to distribute or produce melanin in the skin, eyes, nails, and/or hair. Albinism occurs in all racial and ethnic groups around the world. Albinism affects nearly 18,000 to 20,000 in the United States alone, and can is as high as 1 in 3,000 in other parts of the world. [1] A common misconception is that all forms of albinism affect the skin, but there a multiple forms of Albinism that only affect certain parts of the body, like Ocular Albinism, which only affects the eyes; and there are types of albinism that affects the whole body, like OCa1.[1] Another misconception about Albinism is that the infected have red eyes, but most people with Albinism have blue eyes; because of the lack of pigment in the Iris the blood vessels can be seen which may give the eyes a red or violet color in certain lighting. [4]Albinism is a recessive genetic disease that affects the enzyme tyrosine-3-monooxygenase, which is responsible for producing melanin from amino acid. People who suffer from Albinism usually

Oculocutaneous albinism or OCA is a set of four (or seven, including subdivisions) rare genetic disorders that are caused by mutations in up to seven different genes and are characterized by a complete lack or reduction of the pigment melanin in the eyes, hair, and skin. An estimated 1 in 20,000 people worldwide are born with this disorder. The conditions of OCA are caused by mutations in genes that are responsible and necessary for producing the melanin pigment in specialized cells (melanocytes). Not having enough of the melanin pigment can result in abnormal eye development, resulting in vision problems, and light skin that is easily damaged by the sun, at times resulting in different skin cancers, including an aggressive form called melanoma. Symptoms of this condition can also include nystagmus (involuntary back and forth movement of eyes), iris transillumination (reduced pigment in iris), reduced pigment in the retina, macular hypoplasia (poor development of the macula, resulting in abnormal foveal development in the retina), generally poor visual sharpness, photophobia (increased sensitivity to light), and strabismus (abnormal connection of the nerves from retina to brain, keeping the eyes from tracking

It has long been known that heredity affects health; therefore, genetic disorders do so. Genetic disorders are diseases caused by mutations or abnormalities of genes. Genetic disorders are still viewed as an uncommon event in our world. However, it is revealed that every year, an estimated 7.9 million children, 6 percent of total births worldwide, are born with a serious birth defect of genetic origin. The Middle Easterners, comprising approximately of 400 million individuals, share many similar characteristics with important influence on their genes. Middle Easterners suffer from one of the highest rates of genetic disorders in the world. Over the last decades, the number of genetic disorders in the Middle East had increased significantly

Some ways that diagnose albinism would be a physical exam, or a thorough exam of the eyes, and comparing offspring’s skin pigment to other people in the family. Ways to treat albinism can be to use eyeglasses and sunglasses to protect eyes and correct vision problems, or protective clothing and sunscreen to protect skin from sunburn. Though it may be possible for your skin to fail to produce pigment, albinism is usually a gene started at birth.

Derived from the name Albus, which in Latin means “white”, Albinism is defined as a genetic condition/disorder in which the sufferer lacks pigmentation in their eyes (ocular albinism) and/or skin (oculocutaneous albinism). Typically, Albinism is inherited when the sufferer obtains a gene from both parents, a single exception is present in the form of ocular albinism, which only requires a mother to pass the gene down. Someone with a complete loss of all pigment is called an albino, but if the sufferer still has some pigmentation, they are then considered Albinoid or leucistic. Albinism is considered rare (with less than 200,000) in America, but is very common in Africa, having 1 in every 1500 births.

Life with albinism is not an easy task the risk of cancer goes up when you have albinism. There is on person with albinism that is very high risk for cancer. Her name is “Sam Purcell” she has had skin cancer once and 120 tumors on her skin. Sam has also lived a somewhat normal life with this condition, she also managed to go to the Olympics.

This paper will review about albinism and the genetic causes that susceptibility leading to albinism, as well as the classification of the albinism patients depending on the type of the gene that cause albinism.

Albinism causes a lack of color or pigmentation normally present in the hair, eyes and skin. Under normal conditions, Melanin produced by our bodies determines our skin, hair and eye color. In Albinism the cells that should produce melanin do not function correctly due to inherited defective genes. These are passed on from parent to child. (Mayo Clinic and NGS choices)

First of all, there are two different forms of Albinism and it isn’t easy to tell for sure. Sometimes it is possible to tell if a child has Albinism before he or she is born, at five-week pregnancy. Two tests are available: hairbulb pigment and tryrosinase. Secondly, it’s extremely sad but there is not cure for Albinism. Doctors can prescribe glasses to help vision problems but they can’t give a person with Albinism 20/20 vision. Tinted lenses can be prescribes too ease pain. Thirdly, a person with Albinism has to be cautious around sunlight. Too much exposure to sunlight may lead to skin cancer in the future. People with Albinism need cover skin and sunscreen must be constantly added to help protect the skin. People that have Albinism have to take precaution to protect their

Mutation can occurs or take place in several different way which sometimes lead a drastic change, either for good or bad. Genetic mutation is a permanent change in the sequence of DNA that makeup gene mutation of these sorts can be caused by either inheritance from parents or caused sometimes during someone’s life long. The mutation that has can be inherited is called a germline mutation. Germline mutation affects virtually the entire body and they seem to be present in every cell. In contrast to Germline mutation, a somatic mutation in the DNA of a single cell happen at some point during someone’s life can be cause by the environmental factor or a wrong bonding of molecules. These cannot pass down to the next generation of children because