The Decision For Medical Practitioners

2295 Words10 Pages
Abstract: Hugo was born in 2005 and 18 months later was diagnosed with severe Haemophilia A. The mother, Danielle, and the family were shocked by this news as recent family history showed no previous incidents of Haemophilia. Danielle was tested and found to be a carrier of Haemophilia due to a deletion mutation on her factor VIII gene. Danielle and her partner wanted more children but faced a dilemma. If they another child, it could have severe Haemophilia. She doesn’t want Hugo to feel discouraged or aberrant and is in a current situation as to which route to take. She can either side with the use of IVF and PGD, or conceive naturally and take the risk. The aim of this report is to provide justified arguments and resources as to whether…show more content…
Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the resulting protein(s).” (U.S National Library of Medicine, 2016) The protein associated with the scenario is the factor VIII gene. The factor VIII gene presents instructions for making a protein called coagulation factor VIII. In response to injury, coagulation factor VIII is activated and separates from von Willebrand factor (vWF). The active protein interacts with another coagulation factor called Factor IX, and as a result, this interaction releases a chain of chemical reactions that form blood clots. “The altered or missing protein cannot participate effectively in the blood clotting process. As a result, blood clots cannot form properly in response to injury.” (F8, 2016) These issues with blood clotting may lead to serious bleeding which could be difficult to stop. In order for the blood clot to be produced to assist aiding the injury, it is in need of both factors to interact with each other. Having the deletion mutation process taken place, Danielle’s factor VIII gene was removed and as a result, she was found to be a carrier of Haemophilia. “Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn 't clot normally.” (NIH, 2013) Hemophilia is a chromosome – linked bleeding disorder caused by
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