Week 1 Case Study

A 2 year old male patient in a hematologist’s office, the parents say the boy constantly seems to

be covered in bruises at the slightest touch with frequent bleeds and join pain for no known

reason. No, the child’s parents did not harm their son physically; however, the disorder is

hereditary genetically. The probable diagnosis for this child would be hemophilia also spelled

haemophilia.1 (Wyman, 2009) This is a group of inheritable blood disorders. This is a rare

condition in which the blood doesn’t clot normally with symptoms of easy bruising,

spontaneous bleeding, and prolonged bleeding2 (Mayo Clinic Staff, 2002). With repeated bleeding

of the joints, it will lead to arthritis and permanent joint damage. The mother of the child

expresses she feels guilty for what is happening to her son, most likely this is because learning it

is a hereditary disorder. She may feel as if she could have prevented this somehow when in

reality she couldn’t. The hematologist would provide treatment with injections such as Factor

VIII or other missing clotting factors. Gene therapy is another treatment method. No, the

hematologist cannot cure their son because hemophilia is incurable and can only be managed.3

(Haemophilia)

1 Booth, Kathryn A. & Wyman, Terri D., 2009, Anatomy, Physiology, and Pathophysiology for Allied Health 2nd Edition, textbook 2 Mayo Clinic Staff, 2014, Diseases and Conditions: Hemophilia, http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/definition/con-20029824 3 Wikipedia, Haemophilia, https://en.wikipedia.org/wiki/Haemophilia