Transcript Albinism-_Biology - shsbiogeneticdisorders

ALBINISM
Britany Garcia
What is Albinism?
Albinism is lack of pigment in the eyes,
skin, or hair. While there are different
types of albinism, many people with
albinism are visually impaired and, in
some cases, are legally blind. Individuals
with albinism are sensitive to bright light
and glare and often have other vision
problems.
Alternative Names
Hermansky-Pudlak syndrome
 Albinoid
 Albinic
 Albino
 OCA
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Types of Albinism
Oculocutaneous Albinism
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Latin-derived named meaning
eye and skin
Pigment lacks in skin and eyes
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Ranges from no pigment in
skin to almost normal skin
colors.
In non- humans mutations
derive from lack of melanin in
fur, scales, or feathers
Inherited when parents of
individual both carry copy of
mutated but do not show signs
of symptoms
Ocular albinism
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Only the eyes lack pigment
People with ocular albinism
generally have normal skin
and hair color but have
lighter skin than both parents
Many have normal eye
appearance
Generally sex-linked,
therefore men are more likely
to be affected
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Are w/o another X
chromosome to mask recessive
alleles on the X they inherit
Who is most likely to get this disorder?
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Humans, animals, and even plants can have
albinism.
Generally sex-linked, therefore men are more
likely to be affected
 Are
w/o another X chromosome to mask recessive
alleles on the X they inherit
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Albinism can affect people of all races
Symptoms
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Both parents must carry the
albinism gene in order to have a
child with albinism.
Eyes and Skin do not function
properly
Appearance wise:
Extremely light skin color.
 Light or white colored hair.
 Light eye color, sometimes appearing
pink.
 High susceptibility to sunburn and
skin cancer.
 Vision problems.
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Is it common?
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1 in 20,000 people worldwide are born with
oculocutaneous albinism
The condition affects people in many ethnic groups
and geographical regions.
Is it deadly? Will it shorten lifespan?
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It will shorten
lifespan due to
lung dieses and
bleeding
problems.
It is deadly due
to the rare lung
dieses linked to
it
Treatments
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There is no cure for albinism.
Treatment only delays
symptoms such as:
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Sunscreen
Prevents skin aging or skin
cancer.
 Special UV-proof clothing and
swimsuits.
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Eye Rehabilation
Glasses
 Bifocal Glasses
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Support Groups
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The National Organization for Albinism and
Hypopigmentation
PO Box 959, East Hampstead, NH 03826-0959
Phone: 800 473-2310 (US and Canada) Phone:
603 887-2310 Fax: 800-648-2310
If you think you are an albino please call now.
Can you be tested for it?
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Diagnosis of Albinism is
straightforward and involves
clinical examination and a
few blood tests.
Albinism can be diagnosed by
observation of major or total
absence of pigmentation of
the appearance of the skin,
hair, and eyes.
Recently, a blood test has
been developed that can
identify carriers of the gene
for some types of albinism.
Interesting facts
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Albinism is caused due to inheritance of recessive alleles ,
either from a single parent (very rare) or from both the
parents.
Also caused by Genetic mutations
 Dominant
The altered gene prevents the body from synthesizing the
normal amount of melanin pigment.
Possibility that two non-albinistic parents have an albinistic
offspring.
 The parents are carriers of albinism gene.
Karyotype
Okay Bye.