Name: Chloe Cercado
YEAR/SEC: BSN 1B
GENETIC
DISORDER
1. Down Syndrome
DESCRIPTION
CAUSE
Down syndrome is
a genetic disorder
caused
when
abnormal
cell
division the result
is down syndrome
also known as
trisomy 21.
The
21st
chromosome
is
copied an extra
time in all or some
cells.
2. Cystic Fibrosis
It is a genetic
disorder caused by
mutation in the
cystic
fibrosis
transmembrane
conductance gene.
The lack of a
protein
that
controls
the
balance of chloride
in the body. It can
be inherited if both
parents have the
cystic fibrosis gene.
3. Huntington’s
Disease
It is a rare inherited
disease that causes
progressive
breakdown
of
nerve cells. It is an
autosomal
dominant disorder.
It is a inherited
disease that causes
certain nerve cells
in the brain and
central
nervous
system
to
degenerate. It is
caused
by
an
inherited defect in a
single gene
4. Thalassemia
Part of a hereditary
genetic condition,
thalassemia limits
the amount of
hemoglobin
an
individual
can
It is caused by
mutations in the
DNA of cells that
make hemoglobin,
the substance in red
blood cells that
OTHER
INFORMATION
People with Down
syndrome have 47
chromosomes
in
their cells. They
have
an
extra
chromosome
21.
Down
syndrome
can usually be
identified due to its
distinct
physical
feautures
like
Flattened
face,
upward
slanting
eye lids etc..
The
genetic
disorder
causes
patients to produce
thick and sticky
mucus inhibiting
their
respiratory,
digestive,
and
reproductive
systems.
Cystic
fibrosis
also
involves problems
in digestion and in
reproduction
There is an adultonset Huntington’s
Disease
(HD),
which is most
common.
This
causes
dementia
and
other
complications and
usually
doesn’t
develop until the
person is in their
30s and 40s.
Thalassemia
can
cause
anemia,
leaving
you
fatigued.
People
with
thalassemia
may also have poor
5. Sickle
Anemia
naturally produce.
There are two types
of
thalassemia
based on which
oxygen-carrying
protein in the red
blood
cells
is
lacking; alpha and
beta.
Cell It is a lifelong
genetic condition
passed down from
both parents in
which the red blood
cells,
normally
shaped like discs,
instead form a
crescent or sickled
shape.
carries
oxygen appetite, darkened
throughout
your urine and jaundice
body.
It causes red blood
cells to change
from their usually
donut shape to a
sickle
shape
causing them to
clump together and
become caught in
blood vessels.
Symptoms include
pain,
frequent
infections,
organ
damage,
acute
respiratory
syndrome, and the
swelling of hands
and feet.