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Lecture 2

PATH 310 Lecture Notes - Lecture 2: Antibody, Anaphylaxis, Endonuclease


Department
Pathology and Molecular Medicine
Course Code
PATH 310
Professor
Christine Hough
Lecture
2

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Lecture 2. Hemophilia
Diagnosis of Coagulopathies
Coagulopathy: a condition in which the
blood's ability to coagulate (form clots) is
impaired
This condition can cause a tendency toward
prolonged or excessive bleeding
To diagnose coagulopathies: we must obtain
a plasma sample
In the plasma is the coagulation factors
Serum is devoid of the coagulation factors,
we need the plasma
To test for Hemophilia: take a plasma
sample and measure factor 8 and 9 levels
Hemophilia
A mostly inherited genetic disorder that impairs the body's ability to make blood
clots, a process needed to stop bleeding
This results in people bleeding longer after an injury, easy bruising, and an
increased risk of bleeding inside joints or the brain
Bleeding diathesis: prolonged bleeding
Coagulopathy: defect in blood clotting
Diagnosis: plasma levels of FVIII or FIX
Population Frequency
Both hemophilia A and B are very rare disorders
Hemophilia A: affects 1 in 5,000 males
Hemophilia B: affects 1 in 25,000 males
Canadian Hemophilia Registry (2014)
Population of Canada 36 million
Hemophilia A: 3017
Hemophilia B: 699
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Inheritance of Hemophilia
Monogenic X-linked recessive disorder
Monogenic: only one gene is affected
X-linked recessive disorder:
o Mostly males affected because they dont have a normal X to make them
just a carrier
o If a male has hemophilia, all his daughters will be carriers, and all his sons
will be normal
o It is very rare that females are affected, they can be carriers
o Hemophilia in females can occur through a reciprocal translocation,
which inactivates the good X
Genes for FVIII and FIX Located on the X Chromosome
The two genes that encode for Factor 8 and 9 are located close to the telomere
of the long area of the X chromosome
Factor 8 is closer to the end
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FIX Gene
FIX gene spans 33.5 kb of DNA
Encompasses only 8 exons
Whe it’s traslated the essage is oly . k, whih is pretty sall
Synthesized in hepatocytes in liver
Factor IX Protein Domain Structure
Single chain, vitamin K dependent glycoprotein
Serine protease: acts by cleaving downstream proteins
The N-terminal -  γ-carboxyglutamic acid (gla) residues
Facilitates Ca2+-dependent binding to phospholipid surfaces
Two domains homologous to epidermal growth factor (EGF)
Factor IX is activated by FVIIa/TF as well as FXIa
Held together by disulfide bonds
C-terminal - Catalytic domain (serine protease)
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