Albinism Report.pdf - Harlem Children Society

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Albinism Report.pdf - Harlem Children Society

INTRODUCTION

As years have gone by, new diseases and disorders appear in humans. However,

scientists try to come up with theories on how these diseases/or disorders came about in

order to find a cure or at least treatment for it. Some people believe that disorders or

diseases are just part of nature and the will of God. As a scientist or a researcher there

must be certain circumstances that must be ignored for a success in either a theory, cure,

treatment, etc. Beliefs are not helpful to scientists because they are not accurate since no

real information or data has been gathered to prove the history of a disease or disorder.

Albinism is one disorder discovered by years or scientific research since it was

seen first in animals during 1904. After four more years, in 1908, Archibald Garrod who

collected enough data to prove the existence of the disorder came to be known as the

“Father of Albinism”. According to the Medline Plus Medical Encyclopedia, albinism is

a defect of melanin production that results in little or no pigment in the skin, hair and

eyes. People with albinism might have to protect themselves more than anyone else

from UV rays for different reasons.

BODY

Albinism is an inherited disorder from a mutation on the gene that produces

melanin. Not only humans get albinism but also animals and plants have it as well.

Melanin is made by melanocyte cells which secrete the pigment needed for the skin, hair

and eyes in order to protect from the sun rays. Melanocytes make melanin at the top

layer of the skin known as the epidermis. According to the genetics of an albino, if both

parents are carriers of the syndrome then there is a twenty five percent of their children to


Hermansky-Pudlak Syndrome.

The tyrosinase enzyme is responsible for melanin production. If there’s

something wrong with this enzyme then pigment for the skin, hair, eyes, or any other part

of the body will not be produced in the right amounts. It has being found hundreds of

mutations in the tyrosinase enzyme which cause oculocutaneous albinism type 1. People

with this type of albinism usually get light colored eyes, white hair, and very pale skin

which is due to the lack of melanin being produced. The chromosome that codes for the

enzyme responsible for the production of melanin, tyrosinase is 11q14-21.

An albino could be identified by his/her physical features which were mentioned

in the above paragraph. A good way to maintain a physical and internal health if you

have albinism is by avoiding the sunlight between 10 am and 3pm which is the time of

the rays going stronger. If exposed to the sun then they should wear sun block at all

times, wear long sleeve shirts and pants. For those with albinism that involve the eyes

which are Ocular Albinism, Oculocutaneous Albinism, and Hermansky-Pudlak

Syndrome they must wear tinted sunglasses. Albinos have a higher risk of getting skin

cancer due to the little or no protection from the melanin their body lacks of. Albinism

affecting the eyes will most likely require the use of glasses and have some type of vision

therapy.

Ocular albinism could be detailed explained as having a problem with the fovea

of the eye which is the small area of the retina which leads to acute vision. The

development of ocular albinism makes the fovea of an eye not to function. The fovea is

the center most part of the macula which is responsible for our best and sharpest vision.

Without a healthy fovea we cannot see detailed things when driving, reading, watching


Chediak-Higashi Syndrome is another type of albinism in which the immune

system cells are damaged. When immune cells are destroyed or damaged, then there

would be no resistance of the body if they get attacked by a pathogen or a virus.

Oculocutaneous albinism shares in common with Chediak-Higashi Syndrome that the

patient will have no hair, skin, or eye melanin pigment. Chediak-Higashi Syndrome has

signs and symptoms similar to those of HPS such as blood clotting which leads to easy

bruising and abnormal bleeding. As a person becomes older, they might be affected by

this syndrome by getting clumsy, weak, having problems with their nervous system,

difficulty with walking, etc. Chediak-Higashi Syndrome seems to be a rare disorder in

which only about two hundred people appear to have it worldwide.

The other type of albinism is Griscelli Syndrome or GS which is defined to be a

recessive disorder that results in pigment dilution of the skin and hair. GS has fewer

than ten cases being reported in the United States which could be concluded to be a very

rare syndrome. Children with GS caused by a mutation in the RAN27A may carry

symptoms of hyperreflexia, seizures, signs of intracranial hypertension, ataxia,

hypertonia, nystagmus, etc. The defect in the RAB27A gene is known to develop a

non-stopping T-lymphocyte and microphage syndrome known as Hemophagocytic

Syndrome. The Hemophagocytic Syndrome results in death because it involves the red

bone morrow being damaged which is responsible for the reproduction of blood cells.

Without a red bone marrow transplant a child will not be able to live since no cells will

be able to develop leading to death after five years of life. Most cases of the GS which

has the mutation on the gene to form HS have been reported in the Mediterranean and

Turkish populations.


People with albinism must regularly attend their doctor for skin and vision check

ups. Some doctors might suggest nystagmus surgery to people with this disorder, which

is an involuntary rhythmic shaking or wobbling of the eyes. Mostly everyone with

albinism have nystagmus. The nystagmus surgery is a surgery of the eye muscle that

makes the involuntary movement; however, it does not help with vision itself but it does

help focus better when looking at a certain direction.

People with albinism are discriminated everywhere because they are totally

different compared to their fellow citizens. In Africa, albinos are hunted for their body

parts because of the saying “There is an old belief, that when the volcano erupts, only

albino blood can placate the god of the mountain”. Superstitions of albinos in Africa

makes hunters want to take their body parts for magical powers they believe in.

CONCLUSION

For a person to be healthy physically and mentally they must produce all things

the body needs to maintain a good homeostasis. However, albinos cannot maintain a

very well and stable life because they have to cover their bodies with long sleeve clothing

rather than regular people who have melanin on their skin. Humans are all different and

unique in their own ways. Being an albino does not mean you have to be with albinos

but, society often rejects people with such disorder.

By doing this research paper I have learned from the simple things that albinism

involves to the more complex and deep research of it. The genetics of an albino come

from their closest ancestors, more likely to be their parents carrying the syndrome. Even

though albinism is represented in one, there are five types of it which were covered in


order to learn in depth each of them. Albinos are normal people but as it was seen parts

of Africa they are hunted because of beliefs people with normal skin color have.

Albinos should be treated with respect and with pride since they have to live with a

disorder affecting their lives day by day. If we all accept each other as we are then there

would be a better and a world full of acceptance and warmth.


Bibliography

1. http://www.cancerhelp.org.uk/help/default.asp?page=116

2. http://www.medindia.net/patients/patientinfo/Albinism-Incidence-Causes-Types.htm

3. http://www.albinism.org/publications/what_is_albinism.html

4. http://www.lowvision.org/albinism.htm

5. http://www.albinism.org/publications/ocular.html

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