Sunday, March 13, 2011
What are the Limitations of Albinism?
A person with albinism has very few physical limitations. They need to protect their eyes from UV sun exposure due to the absence of color in the iris. These people need to make sure they go to annual eye exams to correct any visual problems. They must also protect their skin from sun exposure, and go for annual skin examinations to screen for cancer or precancerous skin problems. Children with albinism may need large print textbooks, and if needed, to sit up at the front of the classroom. As far as emotional limitations, people with albinism need to learn coping strategies and have a support system in place to help them work through difficult experiences. Professional counseling may be necessary to help develop coping skills related to issues of albinism.
What is Everyday Life Like? & What is the Quality of Life?
Everyday life for a person with albinism is greatly affected by society's attitudes. The influence that society has on each individual varies according to their experiences. Albinism can lead to emotional difficulties because a person can feel isolated and not participate fully in his or her daily activities. Children with albinism can be especially targeted by other children who don't understand the disability. This can lead to bullying and further isolation. This is why it's so important for parent and teachers to help educate other children in the schools.
How can Albinism be Treated?
Treatment varies on how severe the disorder is, because it is a genetic disorder, interventions are limited and there aren't any cures at this time. The goal of treatment is to relieve symptoms which include the following:
- Reducing exposure to sun with sunscreen and clothing
- Protecting eyes from sun with UV coated sunglasses
- Annual eye examinations and prescription lenses as needed to correct vision problems
- Annual skin examinations to screen for cancer precancerious lesions or moles
- A seat near the front of the classroom if vision problems are a concern
- Handouts of the content written on boards or overhead screens
- High-contrast printed documents, such as black type on white paper
- Large-print textbooks
What is the Life Expectancy of Someone With Albinism?
Albinism rarely affect a person's lifespan, but a person may experience some complications from this disorder. Some of the very few are; skin cancer, and decreasing vision, or blindness. However; Hermansky-Pudlak syndrome can shorten the life expectancy of person. This is due to lung disease, and bleeding problems.
How is Albinism Diagnosed?
Genetic testing offers the most accurate way to diagnosis albinism; however a complete diagnostic workup for albinism should include a physical exam, a description of changes in pigmentation, a pigment history, and a thorough exam of the eyes. An ophthalmologist should preform an electroretinogram test, which can show vision problems related to albinism.
A pigment history is a way to compare the patient's pigmentation to a family members to see if the patient's appears to be lighter. The doctor may also ask the family about any changes that haven been noticed in the patient's hair, skin, or eye color.
A pigment history is a way to compare the patient's pigmentation to a family members to see if the patient's appears to be lighter. The doctor may also ask the family about any changes that haven been noticed in the patient's hair, skin, or eye color.
What are the Chances of Passing Albinism on to Offspring?
The albinism gene is recessive and hence does not cause albinism unless a person inherits two copies of the gene for albinism in other words if there is no gene that makes the normal pigment.
If a person has one gene for normal pigmentation and one gene for albinism, he or she will have enough genetic information to make normal pigment and will not suffer from the disease.
When both parents carry the gene and neither of them have albinism (carriers), then there is 25% chance that the baby will be born with albinism. This type of inheritance is called autosomal recessive inheritance. On the other hand two people with albinism will not automatically produce an albino child although the risks are several times higher. Therefore in conclusion researchers say that the disease is a mystery and more research has to be done in this area to completely understand it.
If a person has one gene for normal pigmentation and one gene for albinism, he or she will have enough genetic information to make normal pigment and will not suffer from the disease.
When both parents carry the gene and neither of them have albinism (carriers), then there is 25% chance that the baby will be born with albinism. This type of inheritance is called autosomal recessive inheritance. On the other hand two people with albinism will not automatically produce an albino child although the risks are several times higher. Therefore in conclusion researchers say that the disease is a mystery and more research has to be done in this area to completely understand it.
How Possible is it that a Cure Will be Found for Albinism?
Sadly, there isn't a cure for albinism. Patient's can lower the risk by staying protected against the sun as much as possible.
What are Some Organizations That can Help a Family Cope With Albinism?
I hope you have found this blog helpful in your journey to discover more about albinism. For additional information about this disorder, please visit the NOAH website. The National Organization for Albinism and Hypopigmentation (NOAH) is a volunteer organization for patient's and families that have this disorder. It proves an enormous amount of information regarding research, self-help and education. You can find more information at http://www.albinism.org
http://www.mmf.umn.edu/assets/images/insight/2007/spring/wheatoncamping.jpg
http://www.mmf.umn.edu/initiatives/insight/2007/spring/Family_gives_back.cfm
http://www.mmf.umn.edu/initiatives/insight/2007/spring/Family_gives_back.cfm
Saturday, March 12, 2011
What are the Physical Symptoms of Albinism?
A person with albinism will have one of the following symptoms:
http://www.marieclaire.com/world-reports/news/latest/black-white-skin
- Lack of color in the hair, skin, and eyes
- Lighter than normal skin and hair
- Patchy, or missing skin color
http://www.marieclaire.com/world-reports/news/latest/black-white-skin
Works Cited
Staff, Mayo Clinic. "Albinism: Causes - MayoClinic.com." Mayo Clinic. Web. 26 Feb. 2011. <http://www.mayoclinic.com/health/albinism/DS00941/DSECTION=causes>.
"Autosomal Recessive: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of Health. 26 Apr. 2010. Web. 26 Feb. 2011. <http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm>.
"NOAH — Publications." NOAH — The National Organization for Albinism and Hypopigmentation. Web. 27 Feb. 2011. <http://www.albinism.org/publications/index.html>.
"Albinism Symptoms. Alternative Medicine Suggestions and Helpful Tips." Natural Skin Care Products and Organic Cosmetics by Vashon Organics - VashonOrganics.com. Web. 27 Feb. 2011. <http://www.vashonorganics.com/WSWrapper.jsp?mypage=treatment_symptoms_albinism.htm>.
"Albinism." KidsHealth - the Web's Most Visited Site about Children's Health. Web. 27 Feb. 2011. <http://kidshealth.org/kid/health_problems/skin/albinism.html>.
Sunday, March 6, 2011
How Prevalent is Albinism in the Population?
Recent statistics show that albinism affects 1 in 17,000 with some form of this inherited disorder. Albinism does not necessary affect lifespan, but it may be the complications form the disorder that may shorten lifespan, such as bleeding problems or lung disease.
What is the Chromosomal Abnormality in Albinism
Due to the fact Albinism is a chromosomal abnormality, "If a person is born to parents who both carry an autosomal recessive change (mutation), that person has a 1 to 4 chance of getting the malfunctioning genes from both parents and developing the disease. That person has a 50% (1 in 2) chance of inheriting one abnormal gene. The would make this person a carrier."
In other words, if four children are born to a couple who both carry the gene (but do not have signs of disease), the statistical expectation is as follows:
"The mutation of the gene is what actually causes the albinism."Each of these genes provides the chemically coded instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your skin and eyes. A mutation may result in no melanin production at all or a significant decline in the amount of melanin." That's why there are several different types of albinism.
There are five rare types of Albinism;
Oculocutaneous Albinism 3- which is caused by a gene mutation on chromosome 9 and has been primarily identified in black South Africans. People with this disorder usually have reddish-brown skin, ginger or reddish hair, and hazel or brown eyes.
Oculocutaneous Albinism 4- which is caused by a gene mutation on chromosome 5, and is a rarer form of the disorder. It is similar to type 2.
X-linked ocular albinism- is another type of rare albinism. It usually happens almost exclusively in males, and is a gene mutation on the X chromosome. People who have ocular albinism have the developmental and functional vision problems; but skin, hair, and eye color are generally in the normal range or slightly lighter than family members.
Hermansky-Pudlak syndrome- this is caused by one of at least seven mutated genes. People with this disorder have signs and symptoms like those of oculocutaneous albinism, but they also develop lung and bowel diseases and a bleeding disorder.
Chediak-Higashi syndrome- a mutation in a gene on chromosome 1. Signs and symptoms are also similar to those of oculocutaneous albinism. The hair is usually brown or blond with a silvery sheen, and the skin is usually creamy white to grayish. People with this syndrome have a defect with white blood cells that make them susceptible to infections.
In other words, if four children are born to a couple who both carry the gene (but do not have signs of disease), the statistical expectation is as follows:
- One child is born with two normal genes (normal)
- Two children are born with one normal and one abnormal gene (carriers, without disease)
- One child is born with two abnormal genes (at risk for the disease)
"The mutation of the gene is what actually causes the albinism."Each of these genes provides the chemically coded instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your skin and eyes. A mutation may result in no melanin production at all or a significant decline in the amount of melanin." That's why there are several different types of albinism.
There are five rare types of Albinism;
Oculocutaneous Albinism 3- which is caused by a gene mutation on chromosome 9 and has been primarily identified in black South Africans. People with this disorder usually have reddish-brown skin, ginger or reddish hair, and hazel or brown eyes.
Oculocutaneous Albinism 4- which is caused by a gene mutation on chromosome 5, and is a rarer form of the disorder. It is similar to type 2.
X-linked ocular albinism- is another type of rare albinism. It usually happens almost exclusively in males, and is a gene mutation on the X chromosome. People who have ocular albinism have the developmental and functional vision problems; but skin, hair, and eye color are generally in the normal range or slightly lighter than family members.
Hermansky-Pudlak syndrome- this is caused by one of at least seven mutated genes. People with this disorder have signs and symptoms like those of oculocutaneous albinism, but they also develop lung and bowel diseases and a bleeding disorder.
Chediak-Higashi syndrome- a mutation in a gene on chromosome 1. Signs and symptoms are also similar to those of oculocutaneous albinism. The hair is usually brown or blond with a silvery sheen, and the skin is usually creamy white to grayish. People with this syndrome have a defect with white blood cells that make them susceptible to infections.
How does a person inherit Albinism?
In this particular blog, I will educate you on the genetic disorder called Albinism. What is Albinism? It is a defect of melanin production, which is a natural substance that gives color to your skin, hair and the iris of the eye. Albinism makes the body unable to produce or distribute melanin in the body. There are two main types of albinism:
Albinism is an autosomal recessive disorder. This means two copies of an abnormal gene must be present for the disease or trait to develop; therefore Albinism is a chromosomal abnormality. It takes place when there is a mutation on one of the first 22 chromosomes. Since genes come in pairs, recessive inheritance means both genes in a pair must be defective to cause a disease. People with only one defective gene in the pair are considered carriers. However; they can still pass the abnormal gene to their children.
- Type 1 albinism is caused by a mutation in a gene on chromosome 11. Most people with this type have milky white skin, white hair and blue eyes.
- Type 2 albinism is due to a defect in a gene on chromosome 15. most people have yellow, auburn, or red hair and blue-gray or tan eyes.
Albinism is an autosomal recessive disorder. This means two copies of an abnormal gene must be present for the disease or trait to develop; therefore Albinism is a chromosomal abnormality. It takes place when there is a mutation on one of the first 22 chromosomes. Since genes come in pairs, recessive inheritance means both genes in a pair must be defective to cause a disease. People with only one defective gene in the pair are considered carriers. However; they can still pass the abnormal gene to their children.
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