Hemophilia

By: Lila Kieley

 Common Names
● Hemophilia A (Classic Hemophilia or Factor VIII(8)
Deficiency)
● Hemophilia B (Christmas Disease or Factor IX(9)
Deficiency)
 The Difference
● Hemophilia A means the person has low levels of
factor VIII(8)
● Hemophilia B means the person has low levels of
factor IX(9)
About the disease
Hemophilia is a rare clotting disorder. In basic
terms, people who have this disorder don’t
have enough clotting proteins in their body,
causing them to bleed more, or for a longer
time than people without Hemophilia.
Type of Disorder
● Hemophilia is a genetic disorder
● It is located on the X chromosome
● This disorder is recessive
● About 400 babies are born with
Hemophilia each year
Signs and Symptoms
● Bleeding of the gums or mouth
● Bleeding after vaccinations
● Blood in stool or urine
● Hard to stop or frequent nose bleeds
● Constant (colorful) bruising
● Hematomas (a pool of clotted blood that
forms in the body)
● Joint tightness
● Joint pain
Diagnostic Testing
People who have this disorder or have family
members who have this disorder will likely
have their newborn tested shortly after birth.
Especially if their newborn is male. Doctors
will usually perform multiple blood tests to
assure that the blood is clotting correctly.
Prognosis
● The life expectancy for someone with
hemophilia who receives correct
treatment is about 10 years less than a
healthy person
● Overall the death rate is about two times
more than a healthy person
● If you have hemophilia some daily
problems could be: joint pain, restricted
from certain activities, unexpected
bleeding, and mobility issues
Prognosis: What can parents do?
● Always stay close to your child
● Child proof the house
● Remove furniture or things that can
easily tip over
● Keep sharp objects like scissors and
knives in out of reach places
● Put non slip mats in places where it
tends to be slippery
● Teach them not to play or run with sharp
objects
Treatment
The best known treatment for Hemophilia is
getting the missing blood clotting factor
replaced. This is done by getting the “factor
concentrates” infused through a vein. People
with hemophilia can learn how to perform
these infusions and do it themselves. Doing
these on a regular basis can help to prevent
bleeding episodes.
Current Research
● SPK-8011: An investigation of gene
therapy for Hemophilia A patients. It is
hoped that it can help produce the factor
concentrates the body is missing
● AMT-060: Is attempting to restore the
making of the Factor IX gene in people
with Hemophilia B.
● TRM-201: An experimental
anti-inflammatory drug that is being
developed to help hemophiliacs with joint
pain.
Genetic counseling
● The chance of a child being born with
Hemophilia is 1 in 5,000
● There is a 25% chance your child will
have hemophilia if you have the
disorder
● Hemophilia is known to be more
common in males, and rare in females
A Great Story
Mickey is a male living with hemophilia A.
Mickey loves to motivate others to watch
out for symptoms at an early age and to
work with their doctor to find the proper
treatment for them.
https://www.youtube.com/watch?v=O8Ibv
0lcW54
https://docs.google.com/document/d/
1HjptLdkjhnTDMMox_Db6q4oYQBe6Sb
kkjbozEJ3M_tw/edit
Sources
https://medlineplus.gov/genetics/condition/hemophilia/#:~:text=The%20major%20types%20of%20
this,disease%20or%20factor%20IX%20deficiency).
https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327#:~:text=He
mophilia%20is%20a%20rare%20disorder,if%20your%20blood%20clotted%20properly.
https://www.cdc.gov/ncbddd/hemophilia/course/Hemophilia_Patterns_v3.pdf
https://www.cdc.gov/ncbddd/hemophilia/facts.html#:~:text=Hemophilia%20is%20caused%20by%20a,loc
ated%20on%20the%20X%20chromosome.
https://www.cdc.gov/ncbddd/hemophilia/data.html#:~:text=In%20the%20United%20States&text=H
emophilia%20A%20affects%201%20in,United%20States%20is%20not%20known.
https://www.dovepress.com/a-cross-national-survey-of-people-living-with-hemophilia-impact-on-dai-peer-
reviewed-fulltext-article-PPA#:~:text=The%20most%20frequent%20difficulties%20in,impacting%20the%
20choice%20of%20hobbies.
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
https://www.hog.org/handbook/section/5/safety-issues
https://hemophilianewstoday.com/experimental-treatments-for-hemophilia/#:~:text=SPK%2D8011
%20is%20an%20experimental,only%20made%20in%20the%20liver.
https://www.cdc.gov/ncbddd/hemophilia/data.html#:~:text=In%20the%20United%20States&text=Hemop
hilia%20A%20affects%201%20in,with%20hemophilia%20A%20each%20year.
https://www.hopkinsmedicine.org/health/conditions-and-diseases/hemophilia-in-children#:~:text=
Females%20have%20two%20X%20chromosomes,passed%20on%20to%20the%20baby.
https://socratic.org/questions/what-is-the-probability-that-their-first-son-will-have-hemophilia