COMMON GENETIC DISEASES

Sickle Cell Anemia

Sickle cell anemia (SCA) occurs when red blood cells are unable to carry adequate oxygen
throughout the body due to their deformationhealthy red blood cells are disc-shaped, but
those with SCA have crescent-shaped red blood cells.
Galactosemia
Galactosemia (British Galactosaemia) is a rare genetic metabolic disorder that affects an individual's ability
to metabolize the sugargalactose properly. Although the sugar, lactose, metabolizes to galactose,
galactosemia is not related to and should not be confused with lactose intolerance.

Gaucher Disease
Gaucher's disease is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain
organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of
the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase.Gauchers
disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms
of this condition vary widely among affected individuals.
Tay-sachs disease

TaySachs disease is an autosomal recessive genetic disorder, meaning that when both parents
are carriers there is a 25% risk of giving birth to an affected child with each pregnancy. The affected child
would have received a mutated copy of the gene from each parent.[1]
Hemophilia

Hemophilia is not one disease but rather one of a group of inherited bleeding disorders that cause abnormal
or exaggerated bleeding and poor blood clotting.

Duchenne Muscular Dystrophy

Symptoms of Duchenne Muscular Dystrophy typically show themselves before the age of 6. The condition
causes fatigue and weakness of the muscles, which starts in the legs and then gradually progresses to the
upper body, leaving individuals wheelchair bound by the age of 12-years-old.

Wilsons disease

Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in

which copper accumulates intissues; this manifests as neurological or psychiatric symptoms
and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper
from the body, but occasionally a liver transplant is required.

Albinism

Albinism is a genetic condition also called achromia, achromasia, or achromatosis. It is

characterized by a deficit in the production in melanin and by the partial or complete absence of
pigment in the skin, hair and eyes.
Phenylketonuria
Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production
of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of
diseases referred to as "hyperphenylalaninemia," all of which involve above normal (elevated) levels of
phenylalanine in the blood.
Krabbe disease
Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous
system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme
deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells
that ensures the rapid transmission of nerve impulses
Niemann-Pick disease
Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown,
transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid
metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and
brain.
Wilson disease
Wilson disease is a genetic disorder that prevents the body from getting rid of extra copper. A small amount
of copper obtained from food is needed to stay healthy, but too much copper is poisonous. In Wilson
disease, copper builds up in the liver, brain, eyes, and other organs. Over time, high copper levels can
cause life-threatening organ damage.
Lou Gehrigs disease
Amyotrophic lateral sclerosis (ALS) - commonly known as Lou Gehrig's disease - is a
neuromuscular disorder. It's caused when the motor neurons that send electric "messages" from the brain
to the spinal cord or from the spinal cord to the muscles are slowly being destroyed. These neurons are
responsible for muscle movement in the body.