Universidad de Puerto Rico- Cayey

Departamento de Biología- Rise Program

Cayey, Puerto Rico

Albinism in

Puerto Rico

Dorianmarie Vargas Franco

Biol. 3033

AlbinismProfa. Belinda Román

Abstract

Here will be presenting information of health project. My purpose with this project was to have

more knowledge about what is basically albinism in general terms. Also to inform people and motivate

them to search more about this complicated condition. Puerto Rico is the capital of albinism which let to

say so many things about how important is albinism for Puerto Rican community. It is difficult to analyze

that a small island such as Puerto Rico will be so many people with these condition. There are many

types of albinism but people commonly know the typical one, those who have white skin and hair and red

eyes. This thought change when the results are known.

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Albinism

Introduction

Albinism is a very complicated condition. Here will be presenting which type of albinism

predominates in Puerto Rico. There are many types of albinism but there is one that predominates in

Puerto Rico affecting the community. It is concentrated in a specific area in great quantities. We want to

know more about albinism because this is not a much investigated condition and people are lack of

information. Some people think that there is not so much people with this condition because is not

usually to see a person with albinism in the street just because of the secondary effects that albinism

have. The less common type of albinism is the one the people know most. Albinism is not just white skin,

white hair and red eyes, is more complicated than what people think. The purpose of this proposal is to

know if Albinism is affecting greatly the Puerto Rican community, in which area and which type of

albinism is predominating in the island.

Albinism is a partial or total lack of pigment in skin hair and eyes. Is also known as acromia,

acronimia or acromatosis. Is a recessive allele so both parents have to have a recessive allele for

albinism so their children could have this condition. Albinism condition does not have a cure but people

do not die because of this, they die mostly because of skin cancer because their skin is very fragile and

sensitive. Taking back, about the pigment, is called melanin. Melanin is a pigment that is found in

melanocites cell that are the skin cells and in epitelos cell that are located in the eyes. There are eight

types of albinism but four of them are principal. The first one is called Albinism type 1 that is a complete

absence of pigment in skin, hair and eyes. Some people could have some grade of pigment in their skin.

Albino people with type 1 are sensitive to light and have nystagmus. Is associated with a mutation or

alteration in tyrosinase gen. Is divided in two types, OCA1(negative) that cause inactivation in genetic

function. The other one is OCA 2 which is positive and does not cause any inactivation in genetic

function. Albinism type 2 which is associated with a mutation or alteration in gene P. Gene P is the one

that accumulates melanine and acts as a transporter in the melanosomal membrane. Albinism type 3

which is associated with gene tyrosinase type 1. Provoke eyes problems but not severe. Finally Albinism

type 4 which is associated with gene MAPT and enzyme that transport melanosomes. People wit

albinism type 4 cannot control eye’s movement. Albinism can also cause other illness such as cancer,

blindness, in pregnant albino women their skin is damage with stains, deafness and other illness. In eyes

are many illness such as nystagmus which is an irregular movement of eyes back and forth or in circular

motion, strabismus which is also known as lazy eyes, photophobia to bright light, optic nerve hypoplasia,

an underdevelopment of the optic nerve and some others.

In Puerto Rico the most predominant one is Albinism type 1. Is concentrated in northwest area, in

Aguadilla, Lares, Mayaguez and others. Albinism type 3 predominates also in central area of Puerto Rico

such as Barranquitas, Naranjito and others. It is thought that Albinism type 1 predominates in that area

because when Spanish conqueror came to Puerto Rico they establish in Lares and transmit this

condition. It is proven because scientific did an experiment in which compare the genes of Puerto Rican

albino and genes with Spanish albino and concord. There are from 300 to 500 people in northwest area

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Albinismonly with albinism type 1. In Puerto Rico there are one of each 400 to 2,000 people. That makes Puerto

Rico the capital of albinism through the world.

Methodology

To complete the research is needed to do a survey because there is not an exact amount of people

with albinism. There is needed some permissions such as IRB and the Health Department so the

medical record of each albino patient could be seen. A survey will help to make like a census and to

know the approximate amount of people with albinism. Also to know which type predominates in which

areas of Puerto Rico. The survey will be made by patient of Albinism. The organization of Albinism and

hypo pigmentation of Puerto Rico is a great organization that can help in the process of the census.

Geneticist could also help with their patient.

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Albinism

Benefits of the research

These researches help people to know the importance of this condition. Some people do not know

the importance of this condition. It is not difficult to have a child with this condition but it complicates with

other illness. Is important to know if are portraits of this condition and to know who can be portrait. If it is

known the quantity of people with this condition can notice that is huge and can control it in some way.

Probably some factor is making this condition to reproduce so fast and if geneticists pay more attention

to the condition it can be controlled. Also can help to make them feel comfortable and to make activities

like a person without this condition.

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Albinism

References

1).Recuperated, June 10,2009 from http://www.albinism.org/

2).Recuperated, June 10,2009 from http://www.primerahora.com/noticia/otras_panorama/noticias/

con_mas_albinos_que_en_ningun_otro_pais/113508.

3).Recuperated, June 12,2009 from http://www.laflecha.net/canales/curiosidades/noticias/puerto-rico-es-

el-pais-donde-hay-mas-albinos

4).Recuperated, June 12,2009 from http://www.cnb.uam.es/~albino/albinoper.html.

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Albinism

Survey:

Name: ____________________ Age: _____ Sex: F___ M___

City: _____________________

Type of Albinism:___________________________

Symptoms:___________________________________________________________________________

_____________________________________________________________________________________

_____________________________________________________

Question Yes No Explain

1). Which part of your body has been affected?

2). Another illness caused by albinism.

3). Do you have an albino familiar?

4). How many?

5) Which familiar is (are)?

6). Which type of albinism does your familiar have?

7). Name of the familiar(s). (Optional).

8). Which treatment do you receive?

9). Which treatment does your familiar(s) receive?

10). Do you think something should be better in

treatments for albino people?

Comments:__________________________________________________________________

____________________________________________________________________________

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Albinism____________________________________________________________________________

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