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megan megan

on 25 March 2014

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Transcript of Hemophilia


By: Megan Backus, Chloe Camello, Allison Ching, Krista Thom
What is Hemopilia?
: A bleeding disorder that slows down the blood clotting process and causes excessive bleeding
People with hemophilia lack the ability to stop bleeding because of low levels, or the complete absence of, a certain protein called a coagulation factor
Hemophilia is caused by a genetic mutation
The mutation involves genes that code for proteins that are essential in the blood clotting process
The mutation causes these proteins to become abnormal and unable to function, or severely reduces the amount of proteins made
The Blood Clotting Process
The blood clotting process involves 13 different proteins
Each protein is labeled with a Roman numeral (I-XIII)
The same blood clotting process occurs for both internal bleeding, bruises, and external bleeding, cuts and injuries
The Blood Clotting Process (Cont.)
When the lining of a blood vessel becomes damaged, the blood vessel constricts in order to slow the flow of blood
Platelets are then brought to the injured area to form an initial plug
They release chemicals that activate the 13 clotting factor proteins
These proteins form a thin, thread-like mesh called fibrin
The fibrin clots the blood cells together
This then prevents further bleeding
Types of Hemophilia
There are two common types of hemophilia:
Hemophilia A (classic hemophilia)
Hemophilia B (Christmas disease)
Hemophilia A
Hemophilia A is the most common type
Hemophilia A causes a mutation to a gene called the FVIII (F8) gene
The FVIII gene causes the production of coagulation factor VIII proteins
(one of the 13 proteins used in blood clotting)
But, mutations in the FVIII gene lead to either the production of an abnormal version of coagulation factor VIII or reduces the amount of protein
The altered or missing FVIII protein cannot participate effectively in the blood clotting process and blood clots cannot form properly in response to an injury
This then leads to continuous bleeding that is difficult to control
Hemophilia B
Hemophilia B is not as common as hemophilia A
Hemophilia B has the same physical symptoms as hemophilia A
Causes a mutation to the FIX (F9) gene
The FIX gene causes the production of FIX coagulation proteins
(1 of the 13 clotting factors)
Mutations in the FIX gene lead to either the production of an abnormal version of coagulation factor IX or severely reduced amounts of coagulation factor IX proteins
The altered or missing FIX protein cannot participate effectively in the clotting process and blood clots cannot form properly in response to an injury
This leads to continuous bleeding that can be hard to control (same effect as hemophilia A)
Severity Levels of Hemophilia
All types of hemophilia (hemophilia A and B) have different levels of severity
They range from mild to moderate to severe
The mutations of each hemophilia severity level cause different factor activity levels of the affected coagulaton factor:
Symptoms of Hemophilia
People who have hemophilia
do not
bleed faster than others; they just bleed for longer periods of time
They usually bleed longer after an injury or surgery
General symptoms of hemophilia include:
Prolonged bleeding after injuries or surgery
Easy or spontaneus bruising
Can result from
: a collection of blood under the skin
Bleeding into the muscles; causing swelling, pain, and redness
Symptoms differ depending on the severity of the hemophilia:
Symptoms of Mild Hemophilia
People who have mild hemophilia will not have spontaneous bleeding
They do not bleed into the brain, joints, or internal organs
The most common symptoms of mild hemophilia are prolonged bleeding after surgery or major injuries
Because of these symptoms, individuals with mild hemophilia are usually not diagnosed until later in life
Symptoms of Moderate Hemophilia
People who have moderate hemophilia do not usually have spontaneous bleeding
They do bleed longer after small injuries
But, because the symptoms are not severe, moderate hemophilia may not be apparent until after abnormal bleeding from a surgery or injury
Individuals who have moderate hemophlia are usually diagnosed before they reach 5-6 years old
<-- Prolonged bleeding after a small injury as a result of moderate hemophilia
Symptoms of Severe Hemophilia
Some of the most serious symptoms of severe hemophilia include bleeding into the joints, muscles, brain, internal organs, and soft tissues
Bleeding in the joints include bleeding into the knees,elbows or other joints
Eventually causes temporary loss of movement in the joint
Bleeding in the brain is a very serious complication of severe hemophilia
Symptoms include headaches, sleepiness, sudden weakness, problems walking, double vision, and seizures
Individuals who have severe hemophlia are usually diagosed before the age of one
<-- Bleeding into the joint as a result of severe hemophilia
How Hemophilia is Inherited
Hemophilia is inherited in a sex-linked recessive pattern
The mutation is located on the X chromosome
Males: 1 mutated copy of the gene in each cell causes hemophilia
Females: have 2 X chromosomes, so the mutation must be present in both copies of the gene to cause hemophilia
Hemophilia is more common in males than in females
Carrier: a female who has only one altered copy of the gene
Carriers usually have 1/2 the usual amount of coagulation factor (enough for normal blood clotting)
About 10% of carriers have less than the normal amount of these coagulation factors (are at risk for abnormal bleeding)
Hemophilia can either be inherited or due to a new mutation
70% of cases are of sex-linked nature
25-30% are of genetic abnormality
Hemophilia's Impact on Society
Number of hemophilia cases:
Hemophilia A: 1/5,000-10,000 males worldwide
Hemophilia B: 1/20,000-34,500 males worldwide
In total, there are about 400,000 people living with hemophilia
Death rates and life expectancy of hemophilia:
Death Rates of Hemophiliacs
Currently, the mortality rate for males with hemophilia is twice that of healthy males
Intracranial bleeding is the most common cause of death in people with hemophilia
Intracranial bleeding: bleeding in the brain

Life Expectancy of Hemophiliacs
People who have hemophilia are living much longer and with less disability than 30-40 years ago
The life expectancy of someone with hemophilia varies depending on whether they receive proper treatment
Without adequate treatment, many people die before they reach adulthood
With proper treatment, life expectancy is about 10 years less than that of males without hemophilia
<-- Intracranial Bleeding
About 75% of the people worldwide with bleeding disorders receive inadeqate or no treatment at all
Many of these people die young
Treatment for Hemophilia
There is currently no cure for hemophilia
When a hemophiliac person gets a cut or scrape, pressure, bandages, and cold compression may be used
Other main treatments include replacement therapy and desmopressin:
Replacement Therapy
The most common treatment for hemophilia
Concentrates of clotting factor, either VIII or IX, are slowly dripped or injected into a vein
They help to replace the clotting factor that is missing or low
Clotting factor concentrates can be made from human blood (plasma-derived) or can be synthetic (recombinant clotting factor)
Desmopressin is also called DDAVP
Is a man-made hormone used to treat people who have mild-moderate hemophilia A
Stimulates the relase of stored factor VIII and increases the level of these proteins in the blood
Is given through injection into a vein or nasal spray
<-- Desmopressin nasal spray
Scientific Research and Future Treatments
Researchers are trying to find a cure for hemophilia
This cure would be gene replacement treatment
This treatment would insert better functioning factor VIII or IX genes into the cells of people with hemophilia
It is hoped that it would eliminate bleeding episodes
Research of gene therapy is now taking place
The results are encouraging but researchers need to evaluate the long-term safety of it
You Should Support Hemophilia Awareness!
Many people around us as well as around the world suffer from hemophilia
Even children have this disorder
Although hemophilia is a very dangerous disease not many people know about it
People who have hemophilia go through so much and we can help them through our support
What Can You Do to Support Hemophilia?
Support Hemophilia Awareness Month!
March is Hemophilia Awareness Month
In 1986, President Ronald Reagan designated the month of March as Hemophilia Awareness Month to bring awareness and attention to those living with a bleeding disorder
During this month, we can tell as many people as possible about hemophilia in order to raise awareness
We can also support hemophilia by educating ourselves about the disorder
During the month of March, we can visit hemohiliafed.org where the Hemophilaia Federation of America posts one fact about a bleeding disorder every day
Donate to the World Federation of Hemophilia
The World Federation of Hemophilia works to improve and sustain care for people with bleeding disorders around the world, especially in third world countries
Close the Gap Campaign:
working towards closing the gap in adequate hemophilia treatment globally
It targets the needs of people with bleeding disorders in the most impoverished regions of the world
By donating to this foundation, you can help to bring treatment to adults and children around the world who suffer from hemophilia
Thank You!
Works Cited
"Learning About Hemophilia." Learning About Hemophilia. N.p., n.d. Web. 14 Mar. 2014.
"Hemophilia." - Genetics Home Reference. N.p., n.d. Web. 13 Mar. 2014.
"Hemophilia." Hemophilia. N.p., n.d. Web. 15 Mar. 2014.
"ClinicalKey - Smarter Search, Faster Answers for Doctors & Clinicians." ClinicalKey - Smarter Search, Faster Answers for Doctors & Clinicians. N.p., n.d. Web. 15 Mar. 2014.
"How Is Hemophilia Treated?" - NHLBI, NIH. N.p., n.d. Web. 14 Mar. 2014.
"Hemophilia." Medical News Today. MediLexicon International, n.d. Web. 15 Mar. 2014.
"Future Therapies." Future Therapies. N.p., n.d. Web. 14 Mar. 2014.
"Programs & Services." Hemophilia Federation of America Hemophilia Awareness Month Comments. N.p., n.d. Web. 14 Mar. 2014.
"What Are the Signs and Symptoms of Hemophilia?" - NHLBI, NIH. N.p., n.d. Web. 15 Mar. 2014.
"Hemophilia." About Hemophilia. N.p., n.d. Web. 13 Mar. 2014.
"ABOUT HEMOPHILIA." Hemophilia A and How Clotting Factors Prevent Bleeding. N.p., n.d. Web. 15 Mar. 2014.
"How You Can Help." How You Can Help, n.d. Web. 15 Mar. 2014.
"About Us." Sponsorship on Bleeding Disorder by Nonprofit International Organization. N.p., n.d. Web. 15 Mar. 2014.
Hemophilia PSA Video
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