Hemochromatosis is a genetic condition where the body absorbs and stores too much iron from the diet. This iron overload accumulates in various organs and tissues. Early diagnosis is important to prevent serious health complications, as prolonged iron buildup can damage organs over time.
Recognizing Early Indicators
The initial signs of hemochromatosis are often subtle and can easily be mistaken for other conditions, making early recognition a challenge. Individuals might experience persistent fatigue. Joint pain is another common early symptom. Abdominal discomfort, generalized weakness, and a darkening of the skin can also occur. These indicators tend to develop gradually, often leading individuals to attribute them to aging or other less serious issues.
Initial Blood Screening
Specific blood tests begin the diagnosis of hemochromatosis, with serum ferritin being a key indicator reflecting the amount of iron stored in the body. Levels above 200 micrograms per liter (mcg/L) in premenopausal women and 300 mcg/L in men and postmenopausal women often suggest iron overload. Another important measure is transferrin saturation (TSAT), which indicates how much iron is bound to transferrin, the protein that transports iron in the blood. A fasting TSAT value exceeding 45% is considered elevated and points toward potential iron overload. These initial blood screenings are important first steps in identifying individuals who may require further diagnostic evaluation.
Genetic Confirmation
If initial blood tests indicate potential iron overload, genetic testing confirms a diagnosis of hereditary hemochromatosis. This condition is most commonly linked to mutations in the HFE gene, specifically the C282Y and H63D variants. Inheriting these mutations can lead to the condition. Genetic testing helps determine if an individual has the inherited predisposition, especially when combined with elevated iron markers.
Assessing Organ Involvement
Once hemochromatosis is diagnosed, further tests assess iron accumulation and any associated organ damage. Magnetic Resonance Imaging (MRI) is a non-invasive method used to measure liver iron concentration (LIC). This imaging technique accurately measures iron levels in the liver, which is often the primary organ affected by iron overload. While less common now due to advances in non-invasive techniques, a liver biopsy may still be performed in some cases to directly assess iron levels in liver tissue and evaluate for fibrosis or cirrhosis. These assessments help determine the severity of the condition and guide treatment strategies.
Family Screening Considerations
Given the genetic nature of hemochromatosis, screening family members is an important consideration once an individual receives a diagnosis. First-degree relatives, including parents, siblings, and children, may be at risk of inheriting the genetic mutations. Early detection in these individuals allows for timely intervention, potentially preventing excess iron accumulation and related health complications. Screening typically involves blood tests for iron markers and, if indicated, genetic testing to identify at-risk relatives.