Genetic Disorders & Diseases
Medical of anaesthesia department
technique
By
MSc MUSTAFA QASIM
Genetic Disorders/diseases
Genetic disorders/diseases are caused by
mutations.
A mutation is any type of change in
genetic material.
Mutations are caused by:
– Radiation
X-rays, sun exposure
– Chemicals
May contain toxic substances
Mutations
You can pass on mutations to your offspring only if
the mutation is in your sex cells!!
Mutations
Mutations in your body cells can be passed on to other
cells of your body only!!
– Cancer (not inherited)
Types of Mutations
1. Whole chromosomes are missing OR there
are extra chromosomes.
This is caused by disjunction which
happens during meiosis when
chromosomes did not segregate or
separate and distribute to the
gametes properly.
2. Sections of Chromosomes are missing or
misplaced
Cleft lip/pallet
• Anyone can have it.
More common in
some races
• Appears at birth
• Birth defect
• Roof of mouth
(palate) not joined.
• Treated with
surgeries.
Clubfoot
• Anyone can have it
• Present at birth
• Many reasons for it.
• Foot and ankle
twisted making it
impossible to walk.
• Treated with surgery
and shoes.
Color blindness
• Sex Linked--Males
• Present at birth
• Inability to
distinguish certain
colors.
• No cure—learn to
accommodate
Cystic Fibrosis
• Recessive genetic
• Usually present at
birth—can show up
later
• Lack an enzyme so
mucous builds up
especially in lungs and
digestion.
• Treated with drugs,
and pounding on back.
Diabetes
• Anyone can get it
• Occurs at birth or
later
• Many factors—incl.
genetics and
overweight
• Abnormal metabolism
of sugar & insulin
• Treated with insulin
and diet
Down Syndrome
• More common to
young or older
parents or genetic
tendency
• Present at birth
• 21st Chromosome
error
• Varies from mild to
severe
• Surgery for heart
defect. Help as
needed
Hemophilia
• Sex linked—males
• Present at birth
• Genetic
• Absence of
clotting factor
• Treated with
transfusions and
avoid injury
Huntington’s disease (Chorea)
• Genetic
• Shows up in
middle age.
• Deterioration of
body and brain
leading to death
• No cure
Hydrocephalus
• Anyone can get it
• Present at birth or
acquired later
• Many factors cause it
• Fluid (water) builds
up on brain causing
brain damage
• Surgery to put in
shunt
Marfan Syndrome
• Genetic—very
rare
• Present at birth
• Heart malformed,
hearing loss, long
and bony limbs
• Treated with heart
surgery, medicine,
therapy
Muscular Dystrophy
• X-linked genetic
• Present at birth or
later in life
• Weakening and
wasting away of
muscles.
Sometimes death
• No cure
Sickle Cell Anemia
• Anyone can get it—
more common in
blacks
• Present at birth
• Genetic recessive
• Abnormal blood
cells—misshaped and
unable to carry
oxygen
• Treated with
transfusions
Tay-Sachs Disease
• More common in Jews
(ethnicity, not religion)
• Diagnosed by six
months—dies around
age 3 to 5
• Genetic—recessive
• Inability to break
down fatty deposits in
the brain. Nervous
system shuts down.
• No cure
Cerebral Palsy
• Brain malformed,
injured at birth, or
damaged later in life
• Not inherited
• Ranges from super
intelligent to severely
retarded
• Affects brain’s ability
to control muscles
• Treat the symptoms
Thalassemia
• Genetic—recessive
• More common in
Greeks and Italians
• Present at birth
• Abnormal red
blood cells, not
enough red blood
cells.
• Treated with blood
transfusions
Toxoplasmosis
• The earlier in pregnancy
the mother is infected, the
lower is the risk of an
infection of the fetus, but
the severer is the disease.
The later in pregnancy the
mother is infected, the
higher is the possibility of
fetal infection, and the
disease is less severe
• Parasitic infection from cat
fecal matter or
undercooked/raw meat
• Infected children have
seizures, hearing loss,
jaundice, blindness, mental
retardation
• Prevent by cooking meat,
not being around cats
Spina Bifida
• Anyone can get it
• Present at birth
• Many factors cause
it—current research
links it to Folic Acid
deficiency in mother
• Can be slight cyst on
spine to open
spine—legs are
paralyzed, poor
bladder control
• Treated with surgery
and therapy
Thank you for
attention
