1. From the workbook and the case study define basic components of hemostatsis to include:

a. Define hemostasis.

b. Define the 3 mechanisms of hemostasis.

c. Define 3 steps leading to platelet plug formation.

d. Define coagulation.

e. Differentiate between the intrinsic, extrinsic, and common pathways of coagulation.

f. Define the end result of the clotting cascade.

g. Define the blood clotting factor deficient in Hemophilia. Define the clotting pathway affected.

 

2. Use the workbook and these websites from the online course to summarize the basic principles of genetics and genetic testing.

 

Understanding Gene Testing :

X Linked Disorders, Males are at Risk:

a. Define the following terms: gene, DNA, chromosome, autosome, sex

chromosome.

b. Summarize the chromosomal makeup of a human cell to include 1) the number of

chromosomes, 2) the number of autosomes and sex chromosomes, 3) the

differentiation of gender by chromosomes.

c. Describe how gene mutations are linked to disease.

d. Differentiate between a hereditary mutation and an acquired mutation.

g. Define recessive allele, dominant allele, and carrier.

h. Discuss how a recessive or dominant allele affects the hereditary influence of a disease.

i. Illustrate the following inheritance patterns using a punnett square: autosomal dominant, autosomal recessive, sex-linked recessive.

j. Discuss the percentage and sex of the offspring affected in autosomal dominant, autosomal recessive, and sex-linked recessive disease.

k. Define gene testing and predictive gene testing. List benefits, risks, and limitations of genetic testing.

 

3. Define which hemostasis function(s) is/are tested for in each of the following tests.

a. platelet count

b. bleeding time

c. PT

d. APTT

e. Factor Assays

 

4 Define hemophilia.

 

5. List the symptoms of a patient with hemophilia to include complications that may arise

from symptoms.

 

6. Summarize treatments of a hemophilia to include:

a. the goals of treatment.

b. Discuss the process by which recombinant factor VIII is made.

c. Discuss blood borne diseases and their impact on an individual with hemophilia.

d. Describe how gene therapy may become a cure for hemophilia.

 

7. Discuss the roles of a pediatrician and/or hematologist, nurses, medical laboratory technologists, and genetic counselors in diagnosing and treating a patient with hemophilia.

 

8. Define how an individual with hemophilia can stop the transmission of the disease.