Download Disease Name: Thrombophilia Inheritance: Autosomal Dominant

Disease Name: Thrombophilia
Inheritance: Autosomal Dominant (AD)
Chromosome Number, Genomic Coordinates (Location): 1, 1: 169,511,953-169,586,631
Gene on Chromosome Location: 1q24.2
Protein Name: Auto-prothrombin IIA
Protein Function: A zymogen (an inactive precursor to a
digestive enzyme) that serves as the proteolytic component of
the anticoagulant complex for the selective inactivation of
factors VA and VIIA (compounds that contribute the
conversion of physical cell states), with Protein S, that
contribute to anticoagulant activity. Anticoagulant activity
limits coagulation of red blood cells in which the red blood cell
liquefies into a thick impenetrable gel in certain blood vessels
(venous and arterial thrombosis representing vein and artery,
Anatomy of deep vein thrombosis that explains the
respectively) until the termination of blood loss requires coagulation
existence of detached blood clots that contribute to
the creation of an impenetrable red blood gel that
at the wound site.
is the essence of an increased risk of the formation
of blood clots in the blood vessels, namely the veins
(less serious) and arteries (more serious).
Introduction of Prognosis, Onset and Symptoms of Thrombophilia
https://ghr.nlm.nih.go
v/art/large/deepvenous-thrombosisdvt.jpeg
Having an increased risk of blood clotting as the cause of the primary symptoms for this
autosomal dominant genetic disease, the onset of thrombophilia can be described with protein C
deficiency, as deep venous/arterial thrombosis depicts. The Protein C,
known as Auto-prothrombin IIA, is the anticoagulation protein that is a
blood plasma protein reliant on Vitamin K. Blood clotting is the main cause
of the symptoms associated with the disease and as the prognosis suggests,
the mainstream symptom is related towards chest pain, shortness of breath,
and if untreated, pulmonary embolism (blockage of blood flow to the lungs
through the arteries), unless if a rare life-threatening blood clotting disorder
called Purpura Fulminans occurs during infancy where blood clots form in
the branches of miniscule blood vessels. Death will rapidly set and even if
treated, the reoccurrence of the disease will occur due to the severity of the
resistance of Auto-prothrombin IIA. The protein C when deprived of the
existence in the blood plasma from the poor response to this protein, derives
Blood clot due to reinforced
towards the existence of the risk of blood clotting. Thrombophilia stems directly
gel surrounding the red
blood cells at the site of the
from this protein as coagulation in the blood vessels known as the arteries (rarely)
blood vessel, a condition of
and veins (commonly) suggests.
intravascular thrombosis.
http://www.scientistlive.com/sites/scient
istlive/files/styles/article/public/6049_image_one-_PR.jpg?itok=ea0aEJkC
‘
Healthy Deoxyribonucleic Acid Sequence (Sequence of the Wild
Type):
Nucleotide Mutation Site
Affected Protein Site
Type of Mutation in Genome
Healthy Amino Acid Sequence (Wild Type Sequence):
Conclusion:
The
Blood clotting is the main cause of the symptoms associated with the disease and as the
prognosis suggests, the mainstream symptom is related towards chest pain and shortness of
breath. This means that Thrombophilia is certainly a very dangerous and deadly disease.
Bibliography:
http://medicine.kln.ac.lk/depts/pathology/images/blood_module/Thrombophilia.jpg