Student Work Hemophilia
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Transcript of Student Work Hemophilia
HEMOPHILIABy Lammi Adem, Jasmine Warfield,
Gerardo Ceballos, Doan Doan.
OVERVIEW
DEFINITIONS OF RELEVANT TERMS
Genetic disease- A genetic disease is a disease that is caused by a change in your DNA.
Clotting Factor- Clotting Factor is the part of the blood that prevent the blood from continuing to flow.
Chromosomes-Chromosomes are the DNA that have been paired off.
Gene- A gene is a piece of the DNA that determines a particular trait.
WHAT IS HEMOPHILIA
Hemophilia is a genetic disease that causes non-stop bleeding. This is because there is no clotting in the blood.
It is generally passed from mother to son, except in rare cases.
The bleeding from Hemophilia can be internal and cause bruising under the skin.
Most treatments for Hemophilia are to add clotting factor to the person’s blood.
HISTORY
Hemophilia wasn’t generally known because the people affected usually died before much was known about it.
The most famous case of hemophilia, is that of Alexei Nikolaevich, Tsarevich of Russia. Alexei’s disease was kept hidden from the public because it would upset the public to have a Czar that couldn’t lead.
THE CAUSES OF HEMOPHILIA
THINGS TO KNOW
Hemophilia is not contagious like a cold or flu
It is usually inherited, which means that it often runs in families. Hemophilia almost exclusively affects boys.
Hemophilia A and Hemophilia B are caused by and inherited defect in a pair of chromosomes.
The defects affect how much the clotting factor a person will produce and hoe the factor will function
It is caused by a defective gene that is unintentionally passed from mothers to sons via the X chromosome
Some males with the disorder are born to mothers who aren’t carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child
If you have inherited hemophilia, you’re born with the condition. It is caused by a defect in one of the genes that determine how the body makes blood clotting factors VIII or IX. These genes are located on the X chromosomes
Chromosomes come in pairs. Females have two X chromosomes Males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting
factors. A male who has the abnormal gene on his X chromosome will have
hemophilia. A female must have the abnormal gene on both of her X
chromosomes to have hemophilia THIS IS VERY RARE! A female is a “carrier” of hemophilia if she has the abnormal gene
on one of her X chromosomes. Even though you can’t tell if she has the hemophilia gene she is still
carrying it in her X chromosome and can pass it on to her child.
INHERITANCE PATTERN
THE FIRST SIGNS
First discovered during infancy or early childhood Bleeding into muscle Deep bruises after receiving shots Prolonged bleeding after male child is
circumcised Prolonged bleeding after umbilical cord is cut
GENERAL SYMPTOMS
HEMARTHROSIS
Symptoms of bleeding into joints includes:
•Warmth/tingling feeling in joints, known as aura•Swelling/inflammation in joints, caused by repeated episodes of bleeding•Child/ Infants are reluctant to move arm or legs due to pain
BLEEDING INTO MUSCLES
Symptoms:BruisingSwellingMuscle hardeningTendernessPain
Especially when large muscle groups are affected
COMPARTMENT SYNDROME
Complication of bleeding to in certain muscles which puts pressure on arteries and nerves
Symptoms:Weakness and paleness in affected
extremitySwelling and numbnessSevere pain during movementInability to move an extremity
PARALYSIS
TREATMENTS &
TESTIMONIALS
TREATMENT OVERVIEW
Genetic- Only women can be carriers- Can be determined by a blood test
Treatment starts at birth Donated blood products can be injected
aiding the replacement of absent or abnormal clotting factors
*Clotting Factors- prevent major blood loss and keep bodily complications from bleeding
Hemophilia Care
Children with Hemophilia can learn to self-administer their replacement clotting factors as young as 10 years old.
When do I treat my Hemophilia?
Clotting Factors are replaced:
-Everyday at the same time to regulate with bodily functions (severe cases only)
-On demand when bleeding occurs
-Prior to an event in which bleeding is possible
CURRENT RESEARCH
The FDA, Food and Drug Association, has approved a new drug that would help people with Hemophilia. The usual treatment, is to give the person clotting factor.
This new formula for the clotting factor would allow the drug to be kept at room temperature. This makes it easier for small hospitals to keep the clotting drugs because of their lack of freezers.
But there is a negative factor towards it. The clotting factor can only be kept for two years instead of three.
LONG TERM & SHORT TERM EFFECTS
The people have to take medicine for the rest of their lives.
Have to be very careful about injuries.
Have to learn to recognize all of the symptoms of their disease.
Long Term Short Term
SOURCES http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_signs.html http://www.nlm.nih.gov/medlineplus/ency/article/000538.htm http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html -
15kghr.nlm.nih.gov/condition=hemophilia - 41k http://www.fda.gov/bbs/topics/NEWS/2008/NEW01833.html http://images.search.yahoo.com/images/view?back=http%3A%2F
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