Hemochromatosis: Essential Diagnostic Tests and Screening Procedures

Hemochromatosis is a genetic disorder characterized by excessive iron absorption, leading to iron buildup in vital organs such as the liver, heart, and pancreas. Early detection is crucial to prevent irreversible organ damage. A comprehensive diagnostic approach involves a series of targeted medical evaluations that assess iron levels, organ function, and genetic predisposition.

1. Blood Tests to Assess Iron Levels

Blood tests are typically the first step in diagnosing hemochromatosis. These include a complete blood count (CBC) along with specific iron studies such as serum ferritin, serum iron, and transferrin saturation. Elevated levels of transferrin saturation—especially above 45%—are strong indicators of iron overload. High serum ferritin levels also suggest excess iron storage, although they can be influenced by inflammation or liver disease, so results must be interpreted carefully.

2. Liver Function Assessment and Tissue Analysis

The liver is one of the primary organs affected by iron accumulation. To evaluate the extent of hepatic involvement, a liver biopsy may be performed. This procedure involves removing a small sample of liver tissue for microscopic examination to determine the degree of iron overload and any associated damage, such as fibrosis or cirrhosis. While imaging techniques are helpful, a biopsy remains the gold standard for assessing liver iron concentration and structural changes.

Imaging Techniques for Liver Evaluation

In addition to biopsies, non-invasive imaging methods like CT scans and magnetic resonance imaging (MRI) are increasingly used to detect iron deposits in the liver. MRI, particularly with specialized sequences like R2 or FerriScan, provides accurate quantification of liver iron content without the need for surgery, making it a valuable tool in monitoring disease progression.

3. Bone Marrow Examination

A bone marrow aspiration or biopsy may be recommended in certain cases to rule out other hematologic disorders that mimic hemochromatosis. While not routinely required for diagnosis, this test helps evaluate iron distribution within bone marrow cells and supports differential diagnosis, especially when coexisting blood conditions are suspected.

4. Glucose Metabolism Testing

Chronic iron deposition in the pancreas can impair insulin production, leading to glucose intolerance or diabetes. A glucose tolerance test (GTT) is often administered to assess how the body processes sugar. Abnormal results may indicate early-stage diabetes, a common complication in untreated hemochromatosis, emphasizing the importance of metabolic screening in at-risk individuals.

5. Genetic Testing for Hereditary Confirmation

Genetic testing plays a pivotal role in confirming hereditary hemochromatosis. The most common mutations occur in the HFE gene, particularly C282Y and H63D. Identifying these mutations helps confirm the diagnosis, enables family screening, and supports early intervention in asymptomatic carriers. Genetic analysis is especially recommended for individuals with a family history of the condition or those showing biochemical signs of iron overload.

6. Imaging Studies to Evaluate Organ Damage

Since hemochromatosis can affect multiple organs, various imaging modalities are employed to assess systemic impact:

Joint and Skeletal X-rays

X-rays of the hands and other joints may reveal characteristic changes such as chondrocalcinosis—a sign of calcium pyrophosphate deposition often seen in hemochromatosis patients. These findings help correlate clinical symptoms like joint pain with underlying metabolic issues.

Cardiac Evaluations

Iron accumulation in the heart can lead to cardiomyopathy or arrhythmias. An echocardiogram (cardiac ultrasound) is essential to evaluate heart structure and function. In some cases, cardiac MRI may be used to detect myocardial iron overload, allowing for timely management to prevent heart failure.

Chest Imaging

Chest X-rays or CT scans may be performed to examine the lungs and heart for signs of enlargement or congestion, which could result from cardiac complications related to iron toxicity.

Early and accurate diagnosis of hemochromatosis significantly improves long-term outcomes. A combination of blood work, genetic testing, imaging, and tissue analysis allows healthcare providers to create personalized treatment plans, including phlebotomy or chelation therapy, to reduce iron levels and protect organ function.