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Answers
to Case Questions
1.
Vasoconstriction, the formation of a platelet plug, and secondary
hemostasis.
2.
Adhesion, platelet release reaction, and platelet aggregation.
3.
The intrinsic, extrinsic, and common pathways.
4. Tissue damage
5. Damage within
the vessel
6. The formation of fibrin threads
7.
Factor VIII in the Intrinsic pathway is affected.
8.
Elevated: Certain malignancies (i.e. leukemia), certain blood
disorders, and rheumatoid arthritis.
Decreased: Certain
blood disorders, infections, and some medications.
9.
A test that measures how long a person takes to stop bleeding after
several small cuts are made on the lower arm.
10.
Extrinsic pathway
11.
Intrinsic pathway
12.
Clinical laboratory scientist.
13.
Because the APTT was the only abnormal result, the physician would
suspect a factor involved in the intrinsic pathway, factor VIII, IX,
XI, or XII.
14.
He has less than 1% of factor VIII present in his blood.
15.
How often a person will bleed, how difficult it will be for them to
form a clot, and how much medication they will need to control their
bleeding.
16.
Female
17.
Male and female
18.
50% in both cases. A female carrier has two x chromosomes, one
of them carries the hemophilia trait. She will pass this to
half of her sons who will have the disease, and half of her daughters
who will be carriers.
19.
The hemophilia trait is carried on the x chromosome. Males have
only one x chromosome, therefore, if they have the hemophilia trait
on the x chromosome they will have the disease. Females have
two x chromosomes, if they have the hemophilia trait on one x
chromosome they are carriers of the disease but generally do not
display symptoms.
20.
His sons will not have hemophilia, all of his daughters will be
carriers. Hemophilia is carried on the x chromosome. A
male has an xy chromosome, a female xx. The hemophilia trait is
linked to the x chromosome. He would pass the y chromosome to
his sons and the x to his daughters.
21.
Freeze-dried factor VIII concentrate was the method of choice for
replacement. This concentrate was pooled from multiple plasma
donors, thus greatly increasing the risk for viral contamination.
The HIV virus was not screened for at the time.
22.
By manufacturing factor VIII
through genetic engineering.
23.
The DNA for Factor VIII is cloned into bacterial DNA. The
bacteria now produce Factor VIII. The bacteria multiply rapidly
producing great quantities of factor VIII which is free from any
viral contamination.
24.
Gene therapy uses viruses as vectors to insert missing genetic
material directly into the patient's own cells. By inserting
the missing genetic material that codes for factor VIII, patient's
may produce factor VIII on their own. Gene therapy is
undergoing experimental trials in humans and is hoped to be a cure
for hemophilia.
25.
See pg. 5-11 workbook
26. Genetic
engineering is being explored as a cure for Hemophilia.
Genes that produce Factor VIII are inserted through
viral vectors into the patient's own cells.
27.
A gene is a working subunit of DNA.
28.
DNA is a chemical information database made up of 2 strands
containing chemical bases. DNA carries the genetic code to make
specific proteins.
29.
A chromosome is a pair of structures in a cell that house the DNA.
Each cell contains 22 autosomes and 1 pair of sex chromosomes (xx
female, xy male).
30.
A mutated gene will encode for a malfunctioning protein. This
may manifest itself in a disease. A disease may be the result
of 1 mutated gene, several, or a combination of gene mutations and
environmental factors.
31.
Hereditary: a gene change in the egg or sperm that affects
every cell in the body.
Acquired: gene changes in individual
cells.
32.
An allele is a variation of the same gene. One allele is
inherited from each parent. A dominant allele is expressed
regardless of the other allele. A recessive allele is not
expressed unless two recessives alleles are present.
33.
A carrier has a recessive mutated gene that is not expressed. A
carrier can pass this mutated gene on to their children.
34.
Examining a person's DNA for genetic disorders.
35.
Examining a person's DNA to determine the probability of getting a
disease before symptoms occur.
36.
No. If Bob carried the hemophilia gene it would be on his x
chromosome and would be expressed. He does not have hemophilia
so does not have the mutated x gene and cannot pass this on to his
children.
37.
No. He has passed the y chromosome to his sons--they cannot
have the mutated x chromosome or they would be girls! His
daughters could have the mutated x chromosome and would be carriers
of the disease.
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