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Transcript of Albinism
Albinism is caused by a defective gene out of several genes that produce melanin, the natural pigment in the skin. This may result in absence of melanin, or a reduced amount of melanin. Albinism is inherited by both parents passing down a defective gene.
Types of Albinism
There are numerous types of albinism. Each type is identified by different gene defects.
Risks and Symptoms of Albinism
Albinism is an inherited disorder that is present at birth. Children are at risk of being born with albinism if they have parents with albinism, or parents who carry the gene for albinism.
Diagnostics and Treatment
The most reliable way to diagnose albinism is through genetic testing to detect defective genes related to albinism. Less accurate ways of detecting albinism include an evaluation of symptoms by your doctor, or an electroretinogram test (measures the response of the light-sensitive cells in the eyes) to reveal problems with your eyes associated with albinism.
Albinism is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color. Albinism is also associated with vision problems. It can change your eye color to red or purple occasionally as well. The eyes of albinos also become very sensitive to bright light due to the lack of pigment in the eyes. Your skin basically loses all pigment or most of the pigment, so it becomes very pale. It also tends to burn more because they also lack melanin, which absorbs UV light. Your hair loses its color as well, so it becomes whiter hair.
Oculocutaneous Albinism (OCA)
Hermansky-Pudlak Syndrome (HPS)
Griscelli Syndrome (GS)
People with albinism will have the following symptoms:
an absence of color in the hair, skin, or eyes
lighter than normal coloring of the hair, skin, or eyes
patches of skin that have an absence of color
Oculocutaneous Albinism affects the skin, hair and eyes. There are different types of OCA. Such as, OCA1, OCA1b, OCA2, OCA3, and OVA4.
OCA1 affects the skin, hair, and eyes. OCA1 is caused by a defect in the tyrosinanase enzyme.
Since Juan's parents carry a gene for albinism, Juan was diagnosed with albinism from birth. We suspected this due to his pale skin and his eye color, however, it was confirmed when we did a genetic test to find any defects in his genes. He tends to be treated differently because of his skin, hair and eyes are a lighter color than everyone around him. He also has to wear shades to protect his eyes. Juan has to wear more clothing than usual to protect his skin from getting burned from the lack of melanin hes has. Juan is going to have to get a surgery on the muscles of the eyes because they have some abnormal movements.
"Having albinism really affects your life, I cannot see as well as a normal person would see, I need prescription glasses to help my vision. I need to wear more protective clothing because I'm too sensitive to the sun. I cannot go out in public as often because of the stares people give me. I need someone else to get my groceries for me.
1 in every 17000 people have a type Albinism
There is no cure for Albinism, however you can relieve symptoms and reduce sun damage. ex: sun glasses to protect eyes from UV light and protective clothing to protect skin.
Ocular albinism is caused by a gene Mutation on the X chromosome and occurs almost exclusively in males. OA only affects the eyes, people with OA have normal hair, skin, and eye coloring, but have no coloring in the retina.
What is Albinism?
Case study of Juan
Hermansky-Pudlak Syndrome is a rare form of albinism that is caused by a defect in one of eight genes. HPS produces symptoms similar to OCA, it occus with lung, bowel, and bleeding disorders.
Chediak-Higashi Syndrome is another rare form of albinism that is caused by a defect in the LYST gene. It produces symptoms similar to OCA, but may not affect all areas of the skin. The hair is usually brown or blond with a silvery sheen, and the skin is usually creamy white to grayish. People with Chediak-Higashi syndrome have a defect in the white blood cells, increasing the risk of infections.
Griscelli Syndrome is an extremely rare genetic disorder that is caused in one of three genes. GS is characterized by albinism, immune problems and neurologic problems. GS usually results in in death within the first decade of life.
OCA4 is caused by a defect in the SLC45A2 protein that results in the minimal production of melanin, commonly found in people of East Asian descent. People with type OCA4 have similar symptoms as people with OCA2.
OCA3 is a defect in the TYPR1 gene, and it usually affects dark-skinned people. People with OCA3 have reddish-brown skin. reddish hair, ad hazel or brown eyes.
OCA2 is less severe than OCA1. OCA2 is caused by a defect in the OCA2 gene that results in reduced melanin production. People with OCA2 are born with slight coloring and have light skin, and their hair may be yellow, blond or light brown.
OCA1a causes to have a complete absence f melanin, people with OCA1a have white hair, very pale skin, and light eyes. People with OCA1b produce some melanin. They have light-colored skin, hair and eyes. their coloring may increase as they age.
Albino Africans live in fear from being butchered because people in the area think that he legs, genitals, eyes, and hairs of people with albinism can help them achieve instant wealth. Despite the government’s moves to protect albinos, every day, at least one albino hand sells for two million shillings or $2000.
Albino Redwood Tree
Around one in 70 people are carriers of albinism. Carriers have a 50% chance of passing the gene down to their offspring.
All organisms can suffer from albinism. The survival of albino plants is about 10 days because they lack chlorophyll. Albino animals also tend to have a shorter life because of their vision problems.