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Hemophilia
By: Olivia Holman, Oscar
Sierras Jaimes and Daniel
Barnett
Name of disorder
 The name of our disorder is hemophilia. An
alternate name for it is haemophilia. The
pronunciation is he·mo·phil·ia. The name
means love of blood and was chosen by
Arabian physician Albucasis based off of the
fact that it is a blood disorder. He also
discovered the disease when it spread to
royal families in Europe.
 oscar
Type of genetic disorder
Hemophilia is known as factor IX deficiency or
Christmas disease. Mutation in the f9 gene
cause hemophilia. Mutations in the f9 lead to
the production of abnormal version of
coagulation factor VIII, or reduce he amount of
these proteins. The disease is inherited by an x
linked recessive pattern. In males one altered
copy of the gene in each cell is sufficient to
cause the condition.
daniel
Chromosome / genetics
Normal
father
Carrier
mother
Normal
son
Infected
daughter
Hemophilia is
located on the x
chromosome.
For females the
disorder must be
present in both
chromosomes to
cause the
hemophilia.
olivia
Symptoms of disorder
 Unexplained bleeding
 Tightness in joints
 Vomitting
 Headaches
 Extreme fatigue
 oscar
Effects of disorder
 Blood doesn’t clot properly
 Pain in joints
 Unexplained bleeding
 Swollen joints
 Easy bruising and bleeding
 Excessive bleeding
 Double vision
 daniel
Diagnosis of Individual with
Disorder
 Hemophilia is determined from a defect in the
genetic material of the body. The most common
forms of hemophilia result from defects in the
genes that control the production of clotting
factors VIII or IX. Most people with hemophilia are
diagnosed at an early age. Specific tests are
screening tests and clotting factor tests. Screening
tests are blood tests that show if the blood is
clotting properly. Clotting factor tests also called
factors assays, are required to diagnose a
bleeding disorder. This blood test shows the type
of hemophilia and the severity.
 daniel
Prognosis of individual with
disorder
The life expectancy for a person with hemophilia is a
the same as anyone else’s, as long as they have
proper treatment. The limitations of this disorder
include not being able to do dangerous things such
as contact sports. They cant do these things
because they bleed and bruise easily. The impact on
the individual is that parents may worry about a
child’s family and that the person would have a lot of
blood loss from minor cuts and scratches.
olivia
Treatments/ Medications
Available
 The current and the main treatment for hemophilia
is called replacement therapy. Replacement
Therapy is treated by injecting the missing factor
protein into the affected persons rein. Gene
Therapy can be a possibility for treating
hemophilia it’s been around for 25 years. It shows
gene therapy is feasible. This means possible to
do easily. Some treatments used in the past are
plasma but it didn’t contain enough of needed
factor.
 oscar
Current Research
 Currently the National Hemophilia Foundation
(NHF) is working towards finding a cure or
treatment for this disorder. They are also
researching this to help prevent
complications.
 olivia
Story of Gerald
 Gerald’s story was written when he was 9. now he
is 13years old. Gerald gets big bruises and
sometimes cant walk right. When Gerald bleeds,
he cant stop bleeding because his blood doesn’t
clot. His bleeds are mostly caused because by
bumps and bruises. Although he has hemophilia,
he is just about as normal as any other kid!
 olivia
Works cited
 www.emophilia.wordpress.com
 www.cdc.gov
 www.hemophilia.org

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Hemophilia PPT 4th period.pptx

  • 1. Hemophilia By: Olivia Holman, Oscar Sierras Jaimes and Daniel Barnett
  • 2. Name of disorder  The name of our disorder is hemophilia. An alternate name for it is haemophilia. The pronunciation is he·mo·phil·ia. The name means love of blood and was chosen by Arabian physician Albucasis based off of the fact that it is a blood disorder. He also discovered the disease when it spread to royal families in Europe.  oscar
  • 3. Type of genetic disorder Hemophilia is known as factor IX deficiency or Christmas disease. Mutation in the f9 gene cause hemophilia. Mutations in the f9 lead to the production of abnormal version of coagulation factor VIII, or reduce he amount of these proteins. The disease is inherited by an x linked recessive pattern. In males one altered copy of the gene in each cell is sufficient to cause the condition. daniel
  • 4. Chromosome / genetics Normal father Carrier mother Normal son Infected daughter Hemophilia is located on the x chromosome. For females the disorder must be present in both chromosomes to cause the hemophilia. olivia
  • 5. Symptoms of disorder  Unexplained bleeding  Tightness in joints  Vomitting  Headaches  Extreme fatigue  oscar
  • 6. Effects of disorder  Blood doesn’t clot properly  Pain in joints  Unexplained bleeding  Swollen joints  Easy bruising and bleeding  Excessive bleeding  Double vision  daniel
  • 7. Diagnosis of Individual with Disorder  Hemophilia is determined from a defect in the genetic material of the body. The most common forms of hemophilia result from defects in the genes that control the production of clotting factors VIII or IX. Most people with hemophilia are diagnosed at an early age. Specific tests are screening tests and clotting factor tests. Screening tests are blood tests that show if the blood is clotting properly. Clotting factor tests also called factors assays, are required to diagnose a bleeding disorder. This blood test shows the type of hemophilia and the severity.  daniel
  • 8. Prognosis of individual with disorder The life expectancy for a person with hemophilia is a the same as anyone else’s, as long as they have proper treatment. The limitations of this disorder include not being able to do dangerous things such as contact sports. They cant do these things because they bleed and bruise easily. The impact on the individual is that parents may worry about a child’s family and that the person would have a lot of blood loss from minor cuts and scratches. olivia
  • 9. Treatments/ Medications Available  The current and the main treatment for hemophilia is called replacement therapy. Replacement Therapy is treated by injecting the missing factor protein into the affected persons rein. Gene Therapy can be a possibility for treating hemophilia it’s been around for 25 years. It shows gene therapy is feasible. This means possible to do easily. Some treatments used in the past are plasma but it didn’t contain enough of needed factor.  oscar
  • 10. Current Research  Currently the National Hemophilia Foundation (NHF) is working towards finding a cure or treatment for this disorder. They are also researching this to help prevent complications.  olivia
  • 11. Story of Gerald  Gerald’s story was written when he was 9. now he is 13years old. Gerald gets big bruises and sometimes cant walk right. When Gerald bleeds, he cant stop bleeding because his blood doesn’t clot. His bleeds are mostly caused because by bumps and bruises. Although he has hemophilia, he is just about as normal as any other kid!  olivia
  • 12. Works cited  www.emophilia.wordpress.com  www.cdc.gov  www.hemophilia.org