GENETIC DISORDERS

SICKLE CELL DISEASE

• This disease is passed on from parent to child
• To get the disease you have to inherit two genes, one from each parent
• It affects different people differently, no set pattern
• Life expectancy has dramatically increased

SYMPTOMS

• Infections
• Stroke
• Liver problems
• Hard time breathing
• Poor eyesight

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• Over 70,000 people have the disease
• About 1,000 babies a year are born with it
• This disease prevents oxygen from reaching many organs
• Without oxygen, the cells that make up the organs die
• Current research: bone marrow transplants

INTERESTING FACTS:

• It is the most common genetic disorder in the U.S.
• Found more commonly where malaria is high
• Sickle cells are stiff and sticky
• It can be cured through bone marrow and stem cell transplants
• The cells can get stuck in small blood vessels or break into pieces

HUNTINGTON'S SYNDROME

• Caused by a genetic defect on chromosome 4
• You inherit it from either parent
• There's a 50/50 chance you'll have it if your parent does
• Huntington's causes disability that gets worse over time
• People usually die 15-20 years of having this

SYMPTOMS:

• Difficulty swallowing
• Involuntary jerking
• Difficulty with physical production of speech
• Impaired posture and balance
• Inability to start a task or conversation

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• An estimated 30,000 have it
• 5-10 out of 100,000
• It is the breakdown of nerve cells
• The abnormal Huntington protein causes damage to the brain
• The Huntington protein is necessary for life

INTERESTING FACTS:

• Brain cells of HD patients accumulate clumps of protein that become toxic
• Everyone has the HD gene
• HD affects races and ethnic groups all around the world
• HD does not skip generations
• Some people with HD lose 25% of brain cells before dying