HEMOPHILIA BY: ANA NOTTINGHAM, HEATHER KOBILNYK, CARMEN LI, NICOLE DRIVER!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

CHARACTERISTICS

Hemophilia is a genetic disorder and can be inherited.

There is little or no blood clotting.

Causes you to bleed excessively.

There are 2 major types of hemophilia. (hemophilia A & hemophilia B).

SYMPTOMS

Hemophilia is first identified when there is excessive bleeding on minor cuts or bruises.

Nosebleeds are common and take a long time to stop.

Another key factor is if another family member had this disease, for it is an inherited trait.

STATISTICS

Estimated, about 20,000 people in the United States are diagnosed with hemophilia.

Each year about 400 babies are born with hemophilia

So far there have been 1,681 per year caused by hemophilia.

TREATMENTS AND THERAPIES

Hemophilia is treated with a method called therapy.

This treatment gives or replaces the clotting factor that is missing or very low.

This method works for both hemophilia A and B.

Fetal Diagnosis

Doctors can identify if the child has Hemophilia.

The doctor would run some standard tests like ultrasounds and Amniocentesis.

When the child begins to grow they can test them by running easy blood tests.

Genetic Cause

The genetic cause is the changes in the F9 and F8 genes.

Both genes give instructions to make certain proteins.

When you have Hemophilia A the F8 gene has been changed. When you have Hemophilia B the F9 gene has been changed.

Identification and Diagnosis

Hemophilia is an X linked bleeding disorder caused by Factor VIII loss.

To diagnose hemophilia they must have a physical examination and blood tests.

For hemophilia the blood tests will show that the amount of F8 and F9 will be low.

Other Disorders

Angelman Syndrome – It is a rare genetic disorder, which was first described and named after Dr. Angelman in 1965. This syndrome is based on a list of characteristics such as: difficulty to speak, intellectual and evolutionary delay, or just smiling and a happy appearance. 

Canavan disease – Canavan disease is a genetic disorder  which gradually damages the nerve cells in the brain. This category of disorders is named Leukodystrophies.

 Celiac disease – Celiac disease is a disorder in which the disease is produced from a reaction to gluadin. This causes the small intestines to become flat, preventing nutrients to be absorbed into the intestines 

Charcot-Marie-Tooth disease – This genetic disorder involves the nerves and a loss of touch sensation and muscle tissue. This is most common in the legs in feet, but in advanced cases it can also happen in the arms and hands. 

Other Disorders

Color Blindness – Color blindness is a case in which it is difficult to perceive different colors.Some of the causes might be of brain, eye, or nerve damage. 

Cri du Chat – Is a rare genetic disorder it happens in 1 in 20,000 – 50,000 live births.  Mostly occurs in babies when the baby has a problem with the nervous system and larynx. 1/3 of them recover by 2. Cystic Fibrosis-

Cystic Fibrosis is an inherited disorder. The person has difficulty breathing and low enzymes. This disease is treated, but not always cured. 

Down Syndrome-  It is a hereditary disorder detected at birth. It affects your physical evolution and facial traits.  It was named after John Langdon Down in 1866. 

Other Disorders

Duchenne muscular dystrophy- This is a mortal disorder which has growing muscle weakness.  This damages muscle tissue and it starts between the legs and pelvis.

Neurofibromatosis- Neurofibromatosis is tumors along nerves.  This may affect development of tissue skin and bones anywhere in the body. 

Klinefelter syndrome- The main effect is abnormal testicular in this disorder.  The person may have bad evolution and decreased fertility.

Marfan Syndrome- This is an inheritable disorder.   It affects the skeletal system cardiovascular system.  It can affect the eyes and skin. 

Other Disorders

Progeria- Progeria is a rare genetic disorder.  The child grows rapidly and is way taller than his or her peers. This disorder is not treatable. 

Tay Sachs Disease- You can usually see major signs of it in infancy.  It is when you kill nerve cells in your braind and or spinal cord.  This disease is more common in people with Jewish heritage. 

Huntington's Disease- This is a disorder involving the brain.  It results in uncontrollable movement, no emotional stability, and loss of cognition.  This disease is most common in Europeans.