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Hemophilia - Page 3

The hematologist reviewed Steven's case and recommended that he be treated with recombinant factor VIII. Steven's doctor explained that in the past, the hemophilia population was largely affected by blood-borne viruses, especially the hepatitis viruses and HIV. Although more expensive, this genetically engineered replacement product virtually eliminates the risk of blood-borne viruses.

See Hemophilia Methods of Treatment

Also see Workbook 8-21, 8-22

  • 21. Why were males with hemophilia at such great risk for acquiring AIDS and other blood-borne viruses in the 1980's?
  • 22. How have researchers helped to alleviate the problem of viral contamination?
  • 23. How is recombinant DNA made?
  • 24. What is gene therapy? Why is this looked at as a possible cure for hemophilia?
  • 25. How does gene therapy work?
  • 26. What is the current status of gene therapy research?

The hematologist recommended that Steven's parents make an appointment with a genetic counselor. The counselor could help them piece together the family history, and identify other siblings whose children may be at risk.

Instructor's Note:

At this point, it would be helpful to review the following information reviewing basic genetics and genetic testing:
Cells and DNA  
Variants and Health
Inheriting Genetic Conditions

Also review the video:  Just for fun: 18 Things You Should Know About Genetics

  • 27. What is a gene?
  • 28. What is DNA?
  • 29. What is a chromosome?
  • 30.  What is a genome?
  • 30. What is a gene varient?  Differentiate between inherited and non-inherited variants.

Using the Workbook and the information under "Inheriting Genetic Conditions" be able to draw a punnett square for the following inheritance patterns:  atosomal dominant, autosomal recessive, x-linked recessive.

Review principles of genetic testing: 
    Genetic Testing     

  • 31. What is genetic testing?
  • 32. Why is genetic testing done?
  • 33.  What might be determined by a positive genetic testing result?

View X Linked Recessive video and review the link.  Then answer the following questions:

   X-linked recessive genetic defects

  • 34.  How do boys inherit a gene varient for Hemophilia?