Hemophilia
Avery Edens
Period 7
Genetic cause
General information
A sex-linked disorder where
blood clotting factor is missing
A mutation in two certain genes
prevents the
from the bloodstream.
Thrombocytes/Platelets from
hemophiliacs do not create
clotting. On the X chromosome,
enough protein(clotting factor)
genes VIII and IX are the source of
for thrombocytes to connect
this mutation. The change in DNA
with and form clots. Each year,
can be a substitution, deletion, or
1 in 5,000 babies are born with
hemophilia.
insertion. Hemophilia is a recessive
sex-linked diesease.
Symptoms
~bleeding into and around the joints
~massive and extreme bruising
~pain swelling and tightness in joints
~Bleeding is extremely heavy and hard to stop in
any part of the body
Hemophilia can be fatal if the bleeding of a patient
cannot be stopped, or if it occurs in a vital organ
like the brain.
Treatment
the best way to treat
hemophilia is injections of
clotting factors into the blood
to create the proteins. This
causes more proteins in the
blood for the Thrombocytes to
attach to and create clots.
Patients can also take
References
Walensky, R. P. (2022, August 1). What is
Hemophilia. Centers for Disease Control and
Antifibrinolytic drugs to thicken
Prevention. Retrieved February 8, 2023, from
their blood so more clots will
https://www.cdc.gov/ncbddd/hemophilia/facts.ht
occur.
ml
Tuddenham, E. G., (1994, September 22).
Haemophilia A: Database of nucleotide
substitutions, deletions, insertions and
The future
rearrangements of the factor VIII gene, Second
Researchers are
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3
edition. Nucleic acids research. Retrieved
February 8, 2023, from
investigating treating
hemophilia with gene
therapy. Stem cells that
produce high numbers of
VIII will be transplanted
into the patients.
08313/
George, L. A. (2010). Gene therapy trial for
hemophilia A. CHOP Research Institute. Retrieved
February 8, 2023, from
https://www.research.chop.edu/gene-therapytrial-for-hemophilia-a