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.
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:
- 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?