Genetic Diseases: Hemophilia A and Huntington’s disease and Cystic fibrosis

Summarize Genetic Diseases: Hemophilia A and Huntington’s Disease and cystic fibrosis in terms of etiology, pathogenesis, clinical picture, diagnosis, and treatment rationale.

 

The 5 General Topics of Disease Summary
1. Etiology & risk factors
2. Pathogenesis: The molecular mechanism of the disease process (How the disease process evolves)
3. Clinical Picture: Signs& Symptoms, Sequelae, and Complications
4. Diagnosis: Labs & tests (as well as screening tests and follow-up tests whenever applicable)
5. Pathophysiologic rationale of treatment

The summary should cover the following 3 genetic diseases:

  • Hemophilia A is an example of X-linked recessive genetic disease
  • Huntington’s Disease as an example of autosomal dominant genetic disease
  • Cystic fibrosis as an example of autosomal recessive genetic disease

 

  • For each disease you need to cover topics through 5. In the above-mentioned table.
  • Etiology: talk about the gene responsible for the disease (which chromosome, the exact location of the gene on the chromosome, and the type of mutation)
  • Pathogenesis: talk about the mechanism by which the mutant abnormal gene leads to the development of the clinical picture of each disease
  • Clinical Picture: S&S, sequalae and complications of each disease
  • Diagnosis: Tests done to diagnose each disease
  • Pathophysiologic rationale of treatment: e.g we use recombinant factor VIII for treating patients with Hemophilia A since they lack that clotting factor because of a genetic mutation……and so on.

 

  • For each disease talk about the Mode of inheritance and recurrence risk: e. what’s the possibility of having normal kids/diseased kids/carrier kids…..etc

 

This is the textbook for information:

McCance, K.L., Huether, S. E. (2018) Pathophysiology: The Biological Basis for Disease in Adults and Children. (8th Ed) St. Louis, MO. Elsevier Mosby ISBN-13: 978-0323583473 ISBN-10: 9780323583473

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