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Hematology focuses on diseases of the blood, bone marrow, and lymphatic system. Learn about the diagnosis and treatment of anemia, leukemia, and lymphoma.
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Diagnosing hemochromatosis is a multi step process that requires a combination of biochemical testing, genetic analysis, and imaging. Because the symptoms often overlap with other common diseases, physicians must maintain a high index of suspicion, particularly when seeing patients with unexplained fatigue, joint pain, or abnormal liver enzymes. The diagnostic pathway has evolved significantly in recent years, moving away from invasive liver biopsies toward sophisticated non invasive imaging techniques. At Liv Hospital, we employ a precise diagnostic algorithm to accurately quantify iron burden and stage the disease, ensuring that each patient receives a diagnosis based on definitive evidence rather than speculation.
The initial evaluation begins with a simple blood draw to measure specific iron markers. These tests are most accurate when performed in the morning after an overnight fast to avoid fluctuations caused by recent meals.
This is the most sensitive and specific screening test for hemochromatosis. It measures the percentage of transferrin (the iron transport protein) that is saturated with iron.
Ferritin is the protein that stores iron within cells. The serum level usually correlates with total body iron stores.
Thresholds: Ferritin levels above 300 ng/mL in men and 200 ng/mL in women generally trigger further evaluation. Levels above 1000 ng/mL are a critical marker for increased risk of cirrhosis.
If biochemical tests suggest iron overload, genetic testing is the definitive next step.
A blood sample is analyzed to look for the two primary mutations in the HFE gene: C282Y and H63D.
Negative HFE: If iron overload is severe but HFE tests are negative, clinicians may test for rarer mutations (non HFE hemochromatosis) involving hemojuvelin or ferroportin genes.
Once the diagnosis is confirmed genetically, it is crucial to measure how much iron has actually accumulated in the liver to guide treatment.
MRI has revolutionized the evaluation of hemochromatosis. Specialized protocols can detect the magnetic disruption caused by iron deposits.
This is a proprietary, FDA approved MRI analysis technique that provides a precise measurement of Liver Iron Concentration (LIC). It is non invasive, painless, and highly accurate. It allows doctors to track the reduction of iron over time during treatment.
While this does not measure iron directly, it measures liver stiffness. This ultrasound based technology helps determine if fibrosis or cirrhosis is present without inserting a needle into the liver. It is a vital tool for staging liver disease.
Before the advent of advanced MRI, liver biopsy was required for everyone. Today, its role is more limited but still valuable in specific cases.
A biopsy may be recommended if:
Pathologists stain the tissue sample with Prussian blue, which turns iron deposits bright blue. This allows for the calculation of the Hepatic Iron Index (HII) and direct visualization of tissue architecture to check for scarring.
In patients with significantly elevated ferritin, screening for cardiac involvement is essential to prevent heart failure.
An ultrasound of the heart assesses the size of the chambers and the ejection fraction (pumping ability). It can detect the dilated cardiomyopathy typical of advanced iron overload.
This is a specialized MRI sequence that is extremely sensitive to iron in the heart muscle. It can detect pre clinical iron deposition before symptoms of heart failure appear, allowing for early intervention.
A diagnosis of hemochromatosis has immediate implications for the patient’s family.
Once a patient (proband) is diagnosed, all first degree relatives (parents, siblings, and adult children) should be offered screening.
Screening typically involves both the iron panel (TSAT and ferritin) and genetic testing. Screening siblings is particularly high yield, as they have the highest probability of sharing the same genotype. Genetic counseling is provided to explain the implications of carrier status versus disease status.
Elevated ferritin is a very common finding in clinical practice, and most cases are not due to hemochromatosis.
Also known as Insulin Resistance Hepatic Iron Overload (IRHIO). Patients with obesity, diabetes, and metabolic syndrome often have high ferritin and fatty liver. However, their transferrin saturation is usually normal. This is the most common confounder.
Chronic alcohol consumption damages liver cells, causing them to leak ferritin into the blood. It also suppresses hepcidin, causing mild iron loading.
Chronic infections (like HIV or Hepatitis C), autoimmune diseases (like Lupus or Rheumatoid Arthritis), and some cancers can cause high ferritin as part of the systemic inflammatory response.
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It is the most accurate early warning sign; a high percentage shows the body is absorbing too much iron before it damages organs.
Yes, high ferritin is very common in inflammation, obesity, and fatty liver disease, even without genetic iron overload.
No, most patients can now be evaluated with special MRI scans that measure liver iron without needles or pain.
It specifically checks for iron deposits in the heart muscle, which is critical for preventing heart failure.
Yes, once they are adults (usually over 18), it is recommended to test them so they can monitor their iron levels early.
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