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Sunday, January 28, 2018

Albinism

What is albinism
People often wonder what albinism is. It is a congenital disorder which results in the skin, eyes, or hair to have little or no color. It is highly associated with visionary disorders. There are different types of albinism including; oculocutaneous albinism which affects the hair, eyes and skin. Ocular albinism which is as a result of a mutation of the x-chromosome.

Other forms of albinism are the Hermansky-Pudlak syndrome which is  not a common albinism disorder brought about by a mutation in one of a single gene in different eight genes.. The disorder is not as common in other parts of the world as it is Puerto Rico. The signs and symptoms shown by these people are very similar to those shown by people who suffer from oculocutaneous albinism, although they may develop lung and bowel diseases, bleeding disorders.

Chediak-Higashi syndrome is a kind of albinism which is rare and is associated with mutations in the LYST gene. The signs and symptoms are very like those seen in oculocutaneous albinism; the hair coloration is mostly in brown, blond which may have a silvery sheen, however, the skin color is mostly cream-white to a gray color. Those suffering from this defect have a disease in which they have problems with production of leucocytes which exposes them to infections.

Causes of albinism
What causes albinism? It is caused by different factors one of which is the x- chromosome mutation, a defect in one of the genes that are responsible for the melanin distribution in the body. This defect causes lack of melanin or reduced production of melanin. This disorder is passed down from parents to children thus causing albinism.

Signs and symptoms of albinism
If you see some of these signs and symptoms in a person, they might be suffering from albinism. They will have lighter skin coloring, hair or eyes, they will also lack color in the eyes, skin, and hair, parts of their skin may be lacking in color. The appearance of their skin will be milky white.

Other symptoms that may be associated with albinism include problems with the eyes and vision. People suffering from albinism will suffer from photophobia, they might have crossed eyes, others will have involuntary eye movements rapidly, or they could have impaired vision, and seeing blurred image due to misshapen corneas.

Risk factors of albinism
For one to suffer from this defect, some factors are highly related to this. The risk factors for this defect are mainly being born by parents who suffer from albinism. It could be both or one of the parents. If either of the parents has the albinism gene even if it is recessive, children are at a high risk of being born with this defect. In addition to that, if a family has a history of people with albinism, it is highly likely for a person to be born with this defect.

Diagnosis of albinism
The diagnosis for albinism could be based solely on the appearance of one’s skin. An electroretinogram examination should be conducted by the specialist in order to determine which visionary problems one could be suffering from.

Complications of albinism
There are however complications that are associated with carrying this defect. Having no skin pigmentation, leads to the person’s skin being irritated by direct exposure to sun rays causing them to suffer from sunburns, some people with this defect are at high risk of contracting skin cancer and last but not least, being shunned in the community and being viewed as freaks of nature and having to answer endless questions there are no answers to them.

Other complications people with this disorder may have included, Freckles on their faces, the appearance of moles on parts of their bodies, these moles may be black due to exposure to sun rays, or they could be pink in color depending on pigmentation and melanin levels. lentigines may also occur on some parts of their bodies, these are large spots similar to freckles. They may also develop the ability to turn as they age gradually.

Treatment of albinism
Albinism could be treated in any of the following ways; even though there is no established cure for this defect, having relief from the complications associated with it could be a remedy for the people who suffer from it. Donning sunglasses to help protect the eyes from the sun rays which could cause irritation, putting on protective clothing and using sunscreen to protect the skin from direct exposure and finally eyeglasses could be prescribed to help correct eye disorders associated with albinism.

Antibiotics could be prescribed for these persons to help lessen their complications. Another method of treatment is through surgery in severe cases of eye movement disorders in order to correct the problematic eye muscles. Transplantation could also come in handy for albinism patients as chegak- higashi patients could undergo bone marrow transplantation to assist in correcting this disorder by improving the immune system and bleeding problems.

The homeopathic treatment uses medicines that stimulate the Melanocyte function to enable the production of the body’s normal Melanin pigmentation responsible for skin coloration. Once treatment commences, the skin becomes pink then, turns brown and finally starts to get pigmented gradually. The success is dependent on the skin patches and the amount of time when one has been having the defect.

Even if there is no established cure for this defect, it is better to prevent the complications. As the saying goes, they say that prevention is better than cure. Using the above-mentioned precaution measures surely goes a mile in helping those suffering from this defect to have as much comfort as is available in their day to day activities. Another measure that can be taken is for parents who have this defect or that suspect they could be carriers to seek medical counseling with regards to decisions concerning becoming parents in the future.

In conclusion, people with albinism are normal like the rest of the populace, while they may lack the skin coloring pigment, they are normal people who should not be subjected to prejudice due to their defect. Albinism is not a disability; therefore these people should be treated equally in all aspects.


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