Summarize Hemophilia A and Cystic fibrosis in terms of etiology, pathogenesis, clinical picture, diagnosis, and treatment rationale.

Summarize Hemophilia A and Cystic fibrosis in terms of etiology, pathogenesis, clinical picture, diagnosis, and treatment rationale.

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