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Case assignment
NURS 315 Pathophysiology
Module 1 Genetics Case Study

Name _____Tammy Bills_______________________________________________
Review the following case study and answer the questions for each part located at the end of the case. Submit as directed to the drop box.

“In Sickness and in Health” by Barry Chess Page

A Trip to the Genetic Counselor

Part 1—Pedigree Construction
Greg and Olga were both a little worried. Starting a family presented choices and responsibilities far more long-reaching and complex than anything either of them had encountered before, and sitting here in the reception area of the genetic counselor’s office they were beginning to feel the pressure. They had met four years earlier in the hemophilia clinic where Greg was waiting for his brother Jeff to get an injection of factor viii, a protein that helps the blood to clot. When a person’s factor viii level is very low (less than normal), even the smallest cuts can be troublesome and uncontrolled internal bleeding is common. Complications include swelling, joint damage, and an increased likelihood of neurological complications due to intracerebral bleeding. Even simple surgical procedures such as tooth extractions become far more risky. Jeff’s condition was noted by his pediatrician shortly after birth when his circumcision bled profusely. Since then, Jeff has received monthly injections of factor viii, either at home or (twice a year) at a clinic where his physical condition is reviewed by a physician’s assistant. At first these injections contained clotting factor isolated from the blood of human donors but, for the last 7 years or so, he has received recombinant clotting factor, which is genetically engineered.
It was in that clinic waiting room that Greg struck up a conversation with Olga, who was waiting for her uncle to finish his exam and receive an injection of clotting factor. Like Jeff, Olga’s uncle also suffered from hemophilia A due to factor viii deficiency.

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