Tuesday, May 28, 2019
In the field of medicine, diagnosis and management are initiated by the presence of symptoms. Nevertheless, a number of scientific advancements allow for an individuals disease susceptibility to be place, through DNA-based diagnostic testing. Although seen as the holy grail in disease prevention and management, DNA testing raises issues that end lead to widespread disapproval amongst the public. Hereditary Haemochromatosis (HH), an autosomal recessive disorder, is a disease that can not only be treated effectively, but if identified early it can also be prevented. HH is a metabolic disorder caused by a mutation in the hemochromatosis (HFE) protein, leading to an increase in intestinal iron absorption despite adequate or even excessive iron stores that lead to liberal iron accumulation in the body, so causing irreversible organ damage. (Fowler, 2008) HH is commonly known as adult onset-HH, as the disorder is often asymptomatic, with excessive iron accumulation observed afterwards the age of 40 predominantly in the liver, but also in the pancreas, pituitary, heart, joints, and skin. This can lead to clinical complications such as cirrhosis, diabetes mellitus, arthritis and liver fibrosis, in gain to skin hyperpigmentation. (Papanikolaou and Pantopoulos, 2004)In the bloodstream, iron binds to beta globulin, establishing an iron-transferrin complex (diferric transferrin). Iron is released from transferrin when the compound binds with the transferrin receptor at the hepatocyte surface. Binding of the HFE protein to the transferrin receptor reduces the affinity of the transferrin receptor for the iron-transferrin complex which in turn reduces the amount of iron being released by the complex. (Vora, 2012) The HFE protein is ... ...d be tested for, in order to minimise the adverse effects it may have on any one individual or family. These individuals adopted a deontological approach, where they believe the well-being of each individual in a population should b e accounted for by the health sector. Conclusively, genetic screening for HH can be approached from many interest groups, each with their own contrasting view, based on their rational. As a young scientist, I believe that the well-being of each individual in the population should be cared for when implementing any genetic screening. Even though haemochromatosis has a low penetrance rate, and is rarely seen in non Caucasian ethnicities, the continuous admixture of ethnicities, its 1 in 300 prevalence rate and its preventability, indicates that any test for it cannot be dismissed, regardless of its ethnic discrimination or other issues.