What is the indication of mild anemia with normal iron, Total Iron-Binding Capacity (TIBC), and ferritin levels?

Hemoglobin and Iron Studies Interpretation: Hemochromatosis

The laboratory values showing mild anemia (Hb 10.7 g/dL) with elevated iron saturation (91.64%), normal iron (229), low TIBC (21), and normal ferritin (227) strongly indicate hemochromatosis rather than iron deficiency. 1

Laboratory Interpretation

The key findings in this case are:

• Hemoglobin: 10.7 g/dL (mild anemia)
• Serum iron: 229 (normal/elevated)
• TIBC: 21 (decreased)
• Transferrin saturation: 91.64% (markedly elevated)
• Ferritin: 227 (normal)

Significance of These Values

1. Transferrin Saturation (TSAT)

   • Normal TSAT is typically 16-45% 1
   • TSAT of 91.64% is extremely elevated
   • TSAT >45% strongly suggests iron overload conditions 1

2. Iron with TIBC

   • Normal iron with low TIBC creates the high saturation percentage
   • This pattern is characteristic of hemochromatosis, not iron deficiency 1

3. Ferritin

   • Normal ferritin (227) in the context of anemia rules out iron deficiency anemia
   • In iron deficiency, ferritin would typically be <30 μg/L 1

Differential Diagnosis

1. Hereditary Hemochromatosis

   • Most likely diagnosis given the laboratory pattern
   • Characterized by increased iron absorption and tissue deposition
   • Can present with mild anemia despite iron overload

2. Secondary Hemochromatosis

   • From multiple blood transfusions
   • Liver disease
   • Alcoholism

3. Anemia of Chronic Disease with Iron Overload

   • Less likely given the extremely high TSAT

Next Steps in Management

1. Confirm diagnosis

   • Genetic testing for HFE gene mutations (C282Y, H63D)
   • Liver function tests to assess for hepatic involvement
   • Consider liver biopsy if indicated

2. Treatment approach

   • Therapeutic phlebotomy is the mainstay of treatment
   • Target ferritin <50-100 μg/L 1
   • Monitor hemoglobin during treatment
   • Temporarily suspend phlebotomy if hemoglobin drops below 11 g/dL 1

3. Family screening

   • First-degree relatives should be tested if hereditary hemochromatosis is confirmed

Common Pitfalls to Avoid

1. Misdiagnosing as iron deficiency

   • The mild anemia might mislead clinicians to consider iron deficiency
   • Iron supplementation would be harmful in this case 1

2. Overlooking the significance of high TSAT

   • TSAT >45% is a key diagnostic indicator of iron overload
   • TSAT >90% is almost pathognomonic for hemochromatosis

3. Focusing only on hemoglobin

   • The complete iron panel is essential for correct diagnosis
   • Measuring only hemoglobin and hematocrit without iron studies can lead to misdiagnosis 2

This pattern of laboratory values is inconsistent with iron deficiency anemia, which would show low hemoglobin, low serum iron, high TIBC, low transferrin saturation, and low ferritin. Instead, these results strongly point to hemochromatosis requiring prompt evaluation and management.