Gene Mutation Due to

Radiation
By - Tyrone Stavros Barraca
Gene mutation due to radiation
3 of the many types
phenylketonuria, hemochromatosis, and telangiectasia.

2 Stavros 11/6/2021
 Gene Mutation
Phenylketonuria

o Phenylketonuria is an inherited disorder that causes a

build-up of phenylalanine (an amino acid) in the blood.
This can cause mental retardation, behavioral and
movement problems, seizures, and delayed
development. Using a blood test, PKU can easily be
found in newborns, and treatment is a diet low in
phenylalanine. Also called PKU.

3 Stavros 11/6/2021
 Gene Mutation
Symptoms of Phenylketonuria If PKU isn’t diagnosed at birth and treatment isn’t
(PKU) started quickly, the disorder can cause:

• Seizures • irreversible brain damage and intellectual disabilities

• Tremors, or trembling and shaking within the first few months of life

• Stunted growth • behavioral problems and seizures in older children

• Hyperactivity
• Skin conditions such as eczema
• A musty odor of their breath, skin, or urine

4 Stavros 11/6/2021
 Causes of Phenylketonuria
Phenylketonuria (PKU)

o Causes of Phenylketonuria PKU is an inherited condition

caused by a defect in the PAH gene. The PAH gene
helps create phenylalanine hydroxylase, the enzyme
responsible for breaking down phenylalanine. A
dangerous buildup of phenylalanine can occur when
someone eats high-protein foods, such as eggs and
meat.
o Both parents must pass on a defective version of the
PAH gene for their child to inherit the disorder. If just
one parent passes on an altered gene, the child won’t
have any symptoms, but they’ll be a carrier of the gene.

5 Stavros
 Gene Mutation
Hemochromatosis

o Hemochromatosis is a condition in which the body takes

up and stores more iron than it needs. The extra iron is
stored in the liver, heart, and pancreas, which may cause
liver disease, heart problems, organ failure, and cancer. It
may also cause bronze skin, diabetes, pain in the joints
and abdomen, tiredness, and impotence.
Hemochromatosis may be inherited, or it may be caused
by blood transfusions. Also called iron overload.

6 Stavros 11/6/2021
 Gene Mutation
Symptoms of
Hemochromatosis (HH)

• fatigue and weakness

• weight loss
• a low sex drive
• abdominal pain
• bronze or gray skin color
• joint pain

7 Stavros 11/6/2021
 Causes of Hemochromatosis
Hemochromatosis (HH) there are two forms of
hemochromatosis are primary and secondary.

o Primary hemochromatosis
Primary hemochromatosis, also known as hereditary
hemochromatosis, usually results from genetic factors.
Usually, a person with hereditary hemochromatosis inherits a copy
of the defective gene from each parent. However, not everyone
who inherits the genes develops the illness. Researchers are
looking into why some people have symptoms of iron overload
and others do not.
In females, symptoms may not appear until after menopause. This
is because menstruation tends to reduce iron levels in the blood.
Once menstruation stops, levels may build up.
o Secondary hemochromatosis

8 Stavros Secondary hemochromatosis occurs when a buildup of iron stems

from another medical condition, such as erythropoietin
hemochromatosis. In this disease, the red blood cells release too
much iron into the body because they are too fragile.
 Gene Mutation
Telangiectasia

o Telangiectasia is the permanent enlargement of blood

vessels, causing redness in the skin or mucous
membranes.

9 Stavros 11/6/2021
 Gene Mutation
Symptoms of Telangiectasia
(HHT)

• itching
• threadlike red marks or patterns on the skin
• frequent nosebleeds
• red or dark black blood in stools
• shortness of breath
• seizures
• small strokes
• port-wine stain birthmark

10 Stavros 11/6/2021
 Causes of telangiectasia
Telangiectasia (HHT)

o Causes of telangiectasia the exact cause of telangiectasia

is unknown. Researchers believe several causes may
contribute to the development of telangiectasia. These
causes may be genetic, environmental, or a combination
of both. It’s believed that most cases of telangiectasia are
caused by chronic exposure to the sun or extreme
temperatures. This is because they usually appear on the
body where skin is often exposed to sunlight and air.
Other possible causes include:
o Alcoholism can affect the flow of blood in vessels and
can cause liver disease
o Pregnancy often applies large amounts of pressure on
11 Stavros
venules
o Aging blood vessels can begin to weaken
 Sources:

THANK YOU!
https://www.healthline.com/health/phenylketonuria#symptoms
https://www.google.com/search?
q=phenylketonuria+pictures&sxsrf=AOaemvIY440ehn8meJ4i9Jk86SMOea
J52Q:1636102382235&source=lnms&tbm=isch&sa=X&ved=2ahUKEwjelLy
q7ID0AhVPEWMBHdFOBbgQ_AUoAXoECAEQAw&biw=1396&bih=694
&dpr=1.38#imgrc=h05C1P4tF78tCM&imgdii=9TEgUAuxHfvCKM
https://www.healthline.com/health/hemochromatosis#symptoms

Made by -Tyrone Stavros Barraca https://www.google.com/search?

q=hemochromatosis&sxsrf=AOaemvLZT6TOxEW8A9GwAbcRDccLTjZlR
g:1636103899878&source=lnms&tbm=isch&sa=X&ved=2ahUKEwjJ25H-
8YD0AhU6AmMBHaziCzgQ_AUoAXoECAEQAw&biw=1396&bih=694&d
pr=1.38#imgrc=GITMCG79Vont-M
https://www.healthline.com/health/telangiectasia#symptoms
https://www.google.com/search?q=ataxia-
telangiectasia&sxsrf=AOaemvJWvFW0uCd-
UoCyQjLtyt67I0EesA:1636104422276&source=lnms&tbm=isch&sa=X&ve
d=2ahUKEwixu57384D0AhUeBmMBHdTwAUQQ_AUoAXoECAEQAw&b
iw=1396&bih=694&dpr=1.38#imgrc=ng5v3jxl79wjaM
https://www.cancer.gov/publications/dictionaries/cancer-
terms/def/phenylketonuria
https://www.cancer.gov/publications/dictionaries/cancer-
terms/def/hemochromatosis
https://www.cancer.gov/publications/dictionaries/cancer-
terms/def/telangiectasia