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.
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
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
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
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.
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.