Hemochromatosis

Hemochromatosis

Introduction to Life Sciences SCI/160

Hemochromatosis

Iron is crucial for making hemoglobin, which is the protein in red blood cells that carries oxygen to other cells. It is also an important component of myoglobin (a protein that helps supply oxygen to the muscles), collagen (a protein in bone, cartilage, and other connective tissue), and many enzymes (Baby Center, 1997-2005). Iron also helps the human body maintain a healthy immune system. Since iron is so important for the human body, you may find it surprising that the most common genetic disease in the United States is hereditary hemochromatosis (HH), also known as iron overload disease or “genetic iron poisoning (Biology, 2003).” Healthy people usually absorb about 10% of the iron contained in the food they eat to meet the body needs, whereas people with hemochromatosis absorb more than the body needs, which can eventually damage your liver, kidneys, and heart. Although both men and woman are susceptible to inherit hemochromatosis, men are 5 times more likely to get the disease than women are due to the fact that women are able to loose blood during menstruation, pregnancy, and birth, and because of this, men are more likely to develop symptoms at an earlier age. While all races are affected by hemochromatosis, the disease most commonly affects Caucasians, and is the least common among African Americans, Asian Americans, Hispanic Americans, and American Indians. One in 8 are "silent carriers" of the single HH gene mutation and 1 in 100-200 have the double mutation putting them at high risk for developing full blown HH (American Hemochromatosis Society, 2005). This means that about 1.5 million people in the United States alone are at risk of dying from complications caused by this disease (Biology, 2003). Many disorders and diseases can be caused by single-gene mutations that damage or destroy key enzymes (Audesirk, T., Audesirk, G.,...