What are the differential diagnoses for a patient with hypoferritinemia (low serum iron), normal Total Iron-Binding Capacity (TIBC), normal ferritin, low iron saturation percentage, and low transferrin levels?

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Last updated: April 24, 2025 • View editorial policy

Differential Diagnosis for Patient with Low Serum Iron, Normal TIBC, Normal Ferritin, Low % Iron Saturation, and Low Transferrin

  • Single Most Likely Diagnosis + Anemia of Chronic Disease (ACD): This condition is characterized by low serum iron, normal or increased ferritin, and normal or decreased TIBC. The presence of low serum iron and normal ferritin in this patient, along with low transferrin, supports this diagnosis. ACD often occurs in patients with chronic infections, inflammation, or malignancies, which can lead to a decrease in iron availability despite adequate iron stores.
  • Other Likely Diagnoses + Iron Deficiency Anemia (IDA) with Acute Blood Loss: Although the ferritin level is normal, which is unusual in IDA, an acute blood loss could lead to a temporary increase in ferritin due to inflammation. The low serum iron and low transferrin could still be consistent with IDA, especially if the blood loss was recent. + Mixed Anemia: This could involve a combination of iron deficiency anemia and anemia of chronic disease. The normal ferritin and low serum iron might suggest a component of iron deficiency, while the clinical context could indicate an underlying chronic disease process.
  • Do Not Miss Diagnoses + Hemochromatosis with Iron Depletion: Although less common, it's crucial to consider hemochromatosis, especially if the patient has a history of blood transfusions or iron overload. In some cases, iron depletion therapies might lead to a temporary decrease in serum iron and transferrin saturation. + Thalassemia Major: This condition can sometimes present with low serum iron due to increased iron utilization for erythropoiesis, despite having normal or elevated ferritin levels due to transfusion therapy. Low transferrin levels could be seen due to the body's attempt to reduce iron absorption.
  • Rare Diagnoses + Atransferrinemia: A rare genetic disorder characterized by the absence or significant reduction of transferrin, leading to low serum iron and a distinctive clinical presentation that includes recurrent infections and increased risk of iron overload in tissues. + Transferrinemia Variants: Certain genetic variants affecting transferrin function or production could lead to abnormal iron transport and utilization, resulting in the observed laboratory abnormalities. These conditions are rare and would require specific diagnostic testing for confirmation.

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