Identify the pathophysiology of the associated alterations, including the normal and altered cellular function.

Discussion: factors that influence disease

The pathophysiology of the associated alterations is complex and can vary depending on the particular disorder. However, in general, these alterations are caused by a disruption in normal cellular physiology. This disruption can occur due to genetic mutations, environmental factors, or a combination of both. For example, in hemophilia A and B, there are mutations that affect the production of certain clotting factors (specifically Factor VIII and IX respectively). These mutations cause a decreased amount of these two clotting factors which prevents adequate blood clot formation leading to abnormal bleeding patterns. In Down Syndrome there is an extra copy of chromosome 21 that causes disruptions in gene expression which affects many aspects of development including physical characteristics as well as cognitive abilities. Other disorders such as cystic fibrosis have genetic mutations that disrupt normal chloride ion transport across cell membranes causing thick mucous build up leading to impaired lung function. Ultimately all these disorders lead to some alteration in cell functioning and thus impede normal bodily processes resulting in a variety of symptoms and health complications.