What is the average ferritin level in hemochromatosis (iron overload disorder) in the Indian population?

Average Ferritin Levels in Hemochromatosis in Indian Population

The average ferritin level in hemochromatosis in the Indian population is not well-established in current guidelines, but diagnostic thresholds for elevated ferritin in hemochromatosis are generally >200 μg/L for females and >300 μg/L for males, with levels >1000 μg/L indicating risk for cirrhosis and other complications. 1, 2

Diagnostic Ferritin Thresholds in Hemochromatosis

• Serum ferritin and transferrin saturation should always be measured together as the initial laboratory tests for diagnosing hemochromatosis 2
• Elevated ferritin levels are defined as >200 μg/L in females and >300 μg/L in males 1
• In non-European populations (including Indian), the pre-test likelihood for detecting the p.Cys282Tyr variant in HFE is very low, so direct sequencing of HFE and non-HFE genes may be considered 1
• Transferrin saturation ≥45% is considered elevated and has high sensitivity but lower specificity for detecting C282Y homozygotes 1, 2

Clinical Significance of Ferritin Levels

• Serum ferritin levels >1000 μg/L are strongly associated with increased risk of cirrhosis 1, 3
• A serum ferritin level <1000 μg/L is an accurate predictor for the absence of cirrhosis in hemochromatosis patients 1
• Serum ferritin >1000 μg/L with elevated aminotransferases and platelet count <200 predicted cirrhosis in 80% of C282Y homozygotes 1
• Even with treatment, patients with serum ferritin >1000 μg/L at diagnosis have approximately 5-fold greater relative risk of death from iron overload 4

Ferritin Patterns in Different Populations

• The Hemochromatosis and Iron Overload Screening (HEIRS) Study showed that serum ferritin levels were elevated (>300 μg/L in men, >200 μg/L in women) in 57% of female and 88% of male C282Y homozygotes 1
• In non-European populations including Indians, the C282Y mutation does not explain high transferrin saturation and serum ferritin levels as frequently as in European populations 1
• In some cases of precirrhotic familial hemochromatosis, serum ferritin concentrations may underestimate iron stores 5

Treatment Targets for Ferritin

• The European Association for the Study of the Liver recommends a target ferritin level of 50 μg/L during the induction phase and 50-100 μg/L during the maintenance phase 6
• The American Association for the Study of Liver Diseases recommends a target ferritin level of 50-100 μg/L for both phases of treatment 6
• When ferritin decreases below 200 μg/L during treatment, it should be checked every 1-2 phlebotomy sessions to avoid iron deficiency 6, 7

Caveats and Pitfalls

• Serum ferritin can be elevated in the absence of increased iron stores in patients with necroinflammatory liver disease, lymphomas, and other inflammatory conditions 1, 2
• Iron overload may be present in a patient with elevated ferritin and normal transferrin saturation, particularly in non-HFE-related iron overload 1, 2
• In the general population, iron overload is not the most common cause of an elevated ferritin level 1
• Among patients with serum ferritin levels >1000 μg/L who don't have hemochromatosis genotypes, common causes include excessive alcohol intake, cancer, or liver disease 3