Hemochromatosis is a genetic disorder marked by excessive absorption of iron from the diet, leading to an abnormal buildup of iron in organs such as the liver, heart, pancreas, and joints. Over time, this iron overload can cause serious complications, including liver disease, heart problems, and diabetes. Although iron is an essential mineral for many bodily functions, in people with hemochromatosis, the body lacks the ability to regulate its absorption properly.
The primary cause of hemochromatosis is a mutation in the HFE gene, most commonly the C282Y and H63D variants. This genetic mutation alters the body’s ability to sense iron levels accurately, resulting in increased absorption from food. Most cases are hereditary (known as hereditary hemochromatosis), inherited in an autosomal recessive pattern—meaning a person must inherit the faulty gene from both parents to develop the disease.
There are also secondary forms of hemochromatosis, which are not inherited but result from other medical conditions or treatments. These include chronic liver disease, repeated blood transfusions (common in conditions like thalassemia), or long-term excessive iron supplementation.
Hemochromatosis often develops gradually, and symptoms may not appear until midlife, making early diagnosis challenging. When symptoms do occur, they may be vague or mimic other conditions. Common signs and symptoms include:
Chronic fatigue and weakness
Joint pain, especially in the knuckles
Abdominal pain
Loss of sex drive or erectile dysfunction
Bronze or gray skin pigmentation (hence the nickname “bronze diabetes”)
Liver abnormalities, such as an enlarged liver or cirrhosis
Heart irregularities, such as arrhythmias or cardiomyopathy
Diabetes, due to pancreatic damage
Memory fog or mood disorders, in advanced stages
Because of its broad range of symptoms, hemochromatosis is often mistaken for other health conditions.
Diagnosing hemochromatosis involves a combination of blood tests, genetic screening, and sometimes imaging or liver biopsy.
Serum ferritin and transferrin saturation tests measure the amount of stored and circulating iron, respectively. Elevated levels suggest iron overload.
Genetic testing can confirm mutations in the HFE gene.
MRI scans help estimate iron levels in the liver non-invasively.
In some cases, a liver biopsy may be needed to assess the extent of damage.
Early detection is crucial to prevent irreversible organ damage.
The primary treatment for hereditary hemochromatosis is therapeutic phlebotomy, a procedure similar to blood donation, where blood is removed regularly to lower iron levels. Initially, this may be done weekly until iron levels normalize, followed by maintenance therapy every few months.
In some cases, iron chelation therapy—oral or intravenous medication that binds excess iron—is used, especially in patients who cannot undergo phlebotomy due to anemia or heart issues.
Additionally, treating any organ damage caused by iron overload (such as diabetes or liver disease) is essential to comprehensive care.
To manage iron levels and avoid further complications, patients should follow specific lifestyle guidelines:
Avoid iron supplements and multivitamins containing iron.
Limit vitamin C intake, which enhances iron absorption.
Avoid raw shellfish, which can lead to serious infections in those with iron overload.
Limit alcohol consumption, as it increases liver stress.
Maintain a healthy diet, avoiding iron-rich foods like red meat in excess.
Regular monitoring of iron levels and organ function is vital.
You should seek medical advice if you experience:
Persistent fatigue without clear cause
Joint pain, particularly in the knuckles or hips
Skin discoloration
Family history of hemochromatosis
Liver function abnormalities
Early consultation and testing can significantly improve outcomes by initiating treatment before serious complications develop.
Hemochromatosis is a manageable condition when diagnosed early. Awareness of its symptoms and risk factors, especially for those with a family history, is key to early intervention. With proper treatment and lifestyle changes, individuals with hemochromatosis can lead full, healthy lives.
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