Excess blood iron levels result from an inherited condition termed hereditary, or primary, hemochromatosis. Some people develop secondary, non-genetically linked, hemochromatosis related to frequent blood transfusions, alcoholism or certain diseases, according to MedlinePlus. Hemochromatosis involves the body absorbing too much iron from consumed food. The excess iron travels throughout the bloodstream and eventually is stored in multiple organs of the body, especially the liver, heart and pancreas. Excess iron damages these organs and potentially leads to life-threatening conditions such cancer, heart problems and liver disease.
Background
Hereditary hemochromatosis is caused by a gene mutation passed on from parents to children. The most commonly mutated gene in individuals with this disease is HFE, which regulates the amount of iron the body absorbs from consumed foods; C282Y and H63D are the most common mutations, according to MayoClinic.com. Children inherit one HFE gene per parent -- if they inherit two abnormal HFE genes they may develop hemochromatosis; however, not everyone with two abnormal genes develop symptoms. If children inherit only one abnormal HFE gene they will not develop hemochromatosis, but their body may still absorb more iron than normal and they can pass the mutation on to their children. Genetic testing can reveal a mutation of the HFE gene.
Mechanism
Iron plays an essential role in multiple bodily functions, especially in the formation of blood. KidsHealth states that on average, people absorb approximately 10 percent of the iron they ingest. When iron stores are sufficient, the body reduces the amount of iron absorbed by the intestine to avoid accruing surplus amounts.
Other the other hand, individuals with hereditary hemochromatosis absorb as much as 30 percent of the iron they ingest, notes MayoClinic.com. The extra iron travels through the bloodstream and eventually is stored in multiple organs of the body. The organs that store the most iron are the liver, heart and pancreas. Over time, excess iron can severely damage these organs, leading to organ failure and chronic diseases, such as cirrhosis and diabetes.
Symptoms
Although present at birth, hereditary hemochromatosis symptoms typically do not appear until later in life, according to KidsHealth. Men usually begin experiencing symptoms between the ages of 30 and 50, while women commonly do not experience symptoms until after age 50. Women are less likely to develop symptoms early due to iron loss during menstruation.
MedlinePlus reports that common symptoms of hereditary hemochromatosis include abdominal pain, lack of energy, joint pain, fatigue, loss of sex drive, lack of normal menstruation, weight loss and generalized darkening of skin color. These symptoms can vary considerably from person to person and from men to women.
Complications
Untreated hereditary hemochromatosis can lead to multiple medical conditions and complications, some of which may be life-threatening, such as cirrhosis, cancer, congestive heart failure and diabetes. Since the liver is the main storage area for excess iron, heredity hemochromatosis damages it, resulting in cirrhosis. Cirrhosis is the permanent scarring of the liver, making it more susceptible to liver cancer.
When extra iron is store in the heart, it affects the heart's ability to circulate a sufficient amount of blood throughout the body, termed congestive heart failure. Hemochromatosis may also cause abnormal heart rhythms, termed arrhythmias, which may cause symptoms of heart palpitation, chest pain and lightheadedness. Additionally, hereditary hemochromatosis can damage the pancreas, causing the development of diabetes.
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