Nicole Rodriguez Ashley Contreras Daisy Bejarano

tanktherapistBiotechnology

Oct 23, 2013 (4 years and 15 days ago)

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Nicole Rodriguez

Ashley Contreras

Daisy Bejarano


Genetic
Counseler


How did the child get the disorder?



Albinism is inherited. The child received an
albinism gene from his/her parents. For the most
common form of albinism both parents have to carry
the gene for albinism but there is still a 1 in 4 chance
that the child will inherit the trait.



If just one parent carried the Albinism gene and
the other parent carried a normal pigment gene their
children wouldn’t inherit the gene but there will be a 1
in 2 chance their kids will be carriers.



If a child who is a carrier marries and has children
with another carrier, there is a 1 in 4 chance their baby
will have Albinism.





What is the survival rate? Is it treatable?



Although there is no cure for Albinism,
Albinos can live a long healthy life. There are
some extremely rare cases in which Albinism
can lead to more serious health complications
like lung, bowel and immune system problems.


What are treatments, if any for this disorder?



People living with Albinism often have trouble
with their eyesight. They may be acquired to wear
glasses or contact lenses to correct eye problems
such as: nearsightedness, farsightedness and
astigmatism. There is also sensitivity to light
because there is not enough color in the iris to
protect the retina.



Aside from giving color to the hair, eyes, and
skin melanin helps protect our skin from the sun.
Since Albinos lack skin pigmentation they are
more susceptible to skin cancer. To avoid
contracting skin cancer, it’s important to wear
sunscreen with a high SPF number, dark clothes,
hats, long sleeves and jeans all the time.



Besides the symptoms, what tests can be done to
diagnose the disorder?




Albinism has a very distinct trait of pale hair, skin
and eyes. Some may have a mild case which results in
having light brown or blue eyes while others have a
severe case with red eyes. Since this disease can be
seen from the outside there are no symptoms or tests
that can be performed to identify the problem as
Albinism.



What biotechnological applications are currently
being

used in the fight against this disease?



There are no biotechnological applications being
done to help cure albinism. Since Albinism is genetic,
there are no cures for genetic disorders.




Disorder Specialist


What is the type of disorder
-

gene or chromosomal?


Albinism is a genetic disorder.


If gene, is it dominant or recessive?



It is caused by a recessive allele.


What the
karyotype

of this disorder looks like?



Since Albinism is caused by a recessive gene it
cannot be seen through a
karyotype

because it is
not a chromosomal abnormality.




What are the signs and symptoms of the disorder
including a detailed description of how it affects the
human body?


A Person with albinism has little or no pigment at all
in their skin, eyes or hair. There are many different
types of the disorder. This is because they lack the
gene that produces melanin, which is skin pigment.
People with albinism suffer from vision problems.
Vision problems result from abnormal development
of the retina and abnormal patterns of nerve
connections between the eye and the brain. The
presence of these eye problems that defines the
diagnosis of albinism.

Eye Problems and Albinism


Red Eye Myth


A common misconception
is that people with
albinism have red eyes.
Usually people with
albinism have blue or grey
eyes. Some even have hazel
or brown eyes. Some do
have a slight red or violet
tint to their eyes, but that
isn’t common.



What different tests could have been provided to
the parent to

have found out about this disorder
before its birth?


Amniocentesis which is drawing fluid from the
mother's uterus while she is pregnant.


What

other names or abbreviations are

used for the
disorder?


There are no other names for albinism

Parent


What kind of lifestyle your child will have with this
disorder?

He/she will have a pretty normal life. he/she won’t
]have 20/20 vision, it is obvious that it will have to
wear contacts or glasses.


My son or daughter won’t
be exposed frequently to the sun. if so, he will use
sun block lotion.


Children at school can be brutal
and mean, but with the support of family and love
ones he/she will have a normal life.


How long your child will live ?



Albinism doesn’t affect on how long my child will
live.



If your child with the disorder will be able to have
children of

his/her own and if

his/her children will be
affected?


Probability their off springs will have the disease if
both parents have to have a gene carrier of

recessive
allele that contains albinism. There is a probability
that ¼ of their children will have albinism.


If you were to have more children,

what is the
probability that another child will be affected by the
same disorder.


If both my husband I are gene carriers there is a
probability of having another child with the disease
more

probability that it wont.



http://static.howstuffworks.com/gif/albinism
-
2.jpg


http://johnkemeny.com/blog/wp
-
content/uploads/2006/06/albinism.jp


http://www.albinism.org


Dowshen

MD, Steven. "Albinism."
KidsHealth

-

the
Web's Most Visited Site about Children's Health
. Jan.
2008. Web. 27 Feb. 2011.