What is Hemochromatosis?
Hemochromatosis is a genetic disorder that causes the body to absorb too much iron from the diet. Iron is an important mineral that the body needs to make hemoglobin, a protein in red blood cells that carries oxygen throughout the body. However, in individuals with hemochromatosis, the body absorbs too much iron, which can lead to iron overload in the body. This excess iron can accumulate in various organs, including the liver, heart, and pancreas, causing damage, and increasing the risk of diseases such as diabetes, liver disease, and heart disease.
Why is Iron Important in the Diet?
Iron is an essential mineral that is needed in the body for several important functions. The main function of iron in the body is to help transport oxygen from the lungs to the rest of the body via red blood cells. Iron is a key component of hemoglobin, a protein in red blood cells that binds to oxygen and carries it to the tissues and organs.
Iron also plays a role in several other important bodily processes, including:
1. Energy production: Iron is needed for the production of adenosine triphosphate (ATP), the main source of energy in the body.
2. Immune function: Iron is important for the proper functioning of the immune system, helping to fight off infections and diseases.
3. Brain function: Iron is needed for the proper functioning of the brain and nervous system. It is involved in the synthesis of neurotransmitters, which are chemicals that help transmit signals in the brain.
What are Common Causes of Hemochromatosis?
As discussed, hemochromatosis is caused by a genetic mutation that affects the way the body absorbs iron from the diet. The most common form of hemochromatosis is caused by a mutation in the HFE gene, which regulates the amount of iron absorbed from food. Individuals with this mutation absorb too much iron from the diet, leading to iron overload in the body. Hemochromatosis is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. If an individual inherits only one copy of the mutated gene, they are considered carriers of the condition but do not develop symptoms. Hemochromatosis is more common in individuals of Northern European descent, but it can occur in people of any race or ethnicity.
What are the Different Types of Hemochromatosis?
There are several types of hemochromatosis, including:
1. Hereditary hemochromatosis (HFE-related): This is the most common type of hemochromatosis and is caused by mutations in the HFE gene. The hereditary form of hemochromatosis affects one in 300 people in the United States. It is an inherited disorder that can cause iron overload in the body.
2. Juvenile hemochromatosis: This is a rare form of hemochromatosis that typically develops in adolescence or early adulthood. It is caused by mutations in the HJV, HAMP, or TFR2 genes, which are involved in regulating iron metabolism.
3. Neonatal hemochromatosis: This is another rare form of hemochromatosis that is present at birth. It is thought to be caused by an autoimmune response in which the mother's immune system attacks the fetus's liver cells, leading to iron overload.
4. Secondary hemochromatosis: This is a form of hemochromatosis that occurs as a result of another underlying condition, such as chronic liver disease, anemia, or excessive iron supplementation.
5. Non-hereditary hemochromatosis: This is a form of hemochromatosis that is not caused by genetic mutations but rather by other factors, such as repeated blood transfusions or excessive iron supplementation.
What are the Symptoms of Hemochromatosis?
The symptoms of hemochromatosis can vary depending on the severity of the condition and how long it has gone untreated. Some people may have no symptoms at all, while others may experience a range of symptoms, including:
Joint pain: Arthritis-like symptoms, including joint pain, stiffness, and swelling, especially in the fingers. These symptoms are sometimes called “Iron fist,” or pain in the knuckles of the pointer and middle fingers.
Fatigue: Feeling tired or weak, even after getting enough sleep.
Abdominal pain: Pain or discomfort in the upper right side of the abdomen.
Less of sex drive: Impotence and loss of sex drive
Skin discoloration: Bronze or grayish-brown skin discoloration.
Enlarged liver or spleen: Swelling or enlargement of the liver or spleen.
Heart problems: Irregular heartbeat, heart failure or heart attack.
Diabetes: High blood sugar levels and symptoms of diabetes.
Depression: Mood swings, irritability, and depression.
It is important to note that these symptoms can also be caused by other conditions, and not everyone with hemochromatosis will experience all of these symptoms.
What are Risk Factors for Hemochromatosis?
There are several risk factors for hemochromatosis, including:
1. Family history: Hemochromatosis is an inherited disorder, so having a family member with the condition increases your risk.
2. Ethnicity: Hemochromatosis is more common in people of Northern European descent, although it can occur in people of any race or ethnicity.
3. Age: Hemochromatosis typically develops in adults between the ages of 30 and 50, although it can occur at any age.
4. Gender: Hemochromatosis is more common in men than in women.
5. Alcohol consumption: Regular and excessive alcohol consumption can increase the risk of liver damage in people with hemochromatosis.
6. Iron-rich diet: Consuming a diet high in iron, such as red meat, can increase the risk of developing hemochromatosis in people who are already predisposed.
7. Certain medical conditions: Certain medical conditions, such as chronic liver disease, can increase the risk of developing hemochromatosis.
How is Hemochromatosis Diagnosed?
Hemochromatosis is typically diagnosed through a combination of medical history, physical examination, and laboratory tests, including:
1. Medical history: The healthcare provider will ask about symptoms and any family history of hemochromatosis.
2. Physical examination: The healthcare provider may perform a physical examination to check for signs of iron overload, such as skin discoloration, joint pain, and an enlarged liver.
3. Blood tests: Blood tests can be used to measure the amount of iron in the blood and to check for other markers of iron overload, such as transferrin saturation and ferritin levels.
• Serum ferritin measures the amount of iron stored in the liver. Levels is often very high in hemochromatosis.
• Serum iron shows how much iron is in your blood. This is usually done after fasting.
• Transferrin saturation test is another type of blood test that measures the amount of iron in your blood.
4. Genetic testing: Genetic testing can be used to check for mutations in the genes associated with hemochromatosis. This can help confirm the diagnosis and identify family members who may be at risk for the condition.
5. Liver biopsy: In some cases, a small needle is used to remove a tiny bit of liver tissue for study under a microscope.
It is important to work with a healthcare provider to determine the appropriate diagnostic tests and to develop an appropriate treatment plan. Early detection and treatment can help prevent long-term complications of hemochromatosis.
What Are Some Things to Avoid With Hemochromatosis?
There are several ways to reduce iron levels in the body, including:
1. Phlebotomy: This is the most common treatment for hemochromatosis. It involves the removal of blood, typically one pint at a time, to reduce iron levels in the body. The frequency of phlebotomy varies depending on the severity of the condition and the individual's response to treatment.
2. Iron chelation therapy: This involves the use of medications that bind to excess iron in the body and help remove it through urine or feces. This treatment is typically reserved for people who cannot undergo phlebotomy or who have severe iron overload.
3. Dietary changes:
Eating a diet low in iron can help reduce iron levels in the body.
These include:
• Red meat: Beef, pork, lamb, and other red meats are high in iron and should be limited or avoided.
• Organ meats: Liver, kidney, and other organ meats are particularly high in iron and should be avoided.
• Fortified cereals: Many breakfast cereals are fortified with iron, so it is important to check the label and choose cereals that are low in iron.
• Shellfish: Oysters, clams, mussels, and other shellfish are high in iron and should be limited or avoided. Undercooked fish and shellfish which may contain bacteria that cause infections and complications in people with disease.
4. Avoiding triggers: Avoiding alcohol, vitamin C supplements, and other triggers can help prevent iron overload in people with hemochromatosis
Some Ways to Decrease Iron Levels in the Body:
There are several supplements that may help decrease iron levels in the body, although it is important to note that these should not be used as a substitute for medical treatment. Some supplements that may help reduce iron levels include:
1. Curcumin: This is a compound found in turmeric that has been shown to have antioxidant and anti-inflammatory effects. Some studies have suggested that curcumin may help reduce iron levels in the body.
2. Green tea extract: Green tea extract contains compounds called catechins, which have been shown to have antioxidant and anti-inflammatory effects.
3. Calcium: Calcium has been shown to decrease the absorption of iron in the body. Increasing calcium intake through diet or supplements may help reduce iron levels.
4. Quercetin: Quercetin has been shown to inhibit the absorption of iron in the intestine. Other studies have suggested that quercetin may have a role in reducing iron levels in the body in cases of iron overload. Quercetin is a flavonoid that is found in many fruits and vegetables, including onions, apples, and berries. It has been studied for its potential health benefits, including its antioxidant and anti-inflammatory effects.
Disclaimer: These statements have not been evaluated by the Food and Drug Administration. The contents of this website are based upon the views of Dr. Walker and his experience. This product is not intended as medical advice nor to diagnose, treat, cure or prevent any disease. The information is likewise not to replace the advice of a qualified health care provider. The information provided herein is intended as a sharing of general knowledge only and is not intended to be, nor is it, medical advice or a substitute for medical advice. That being said, please consult your healthcare provider before using supplements or providing supplements to children under the age of 18. If you have or suspect you have, a specific medical condition or disease, please consult your healthcare provider.
© Dr. Dennis D. Walker 2022. All Rights Reserved