What is the diagnosis for a patient with elevated iron levels (195 mcg/dL), elevated iron saturation (59%), elevated hemoglobin (18.3 g/dL), and normal total iron-binding capacity (TIBC) (330 mcg/dL)?

Medical Advisory BoardAll articles are reviewed for accuracy by our Medical Advisory Board
Article Review Status
Submitted
Under Review
Approved

Last updated: April 3, 2025 • View editorial policy

Differential Diagnosis

The patient's laboratory results show elevated iron levels, ferritin, and iron saturation, with a high hemoglobin and hematocrit. The following differential diagnoses are considered:

  • Single most likely diagnosis + Hemochromatosis: Elevated iron levels, ferritin, and iron saturation suggest iron overload, which is consistent with hemochromatosis. The high hemoglobin and hematocrit also support this diagnosis.
  • Other Likely diagnoses + Polycythemia Vera: The high hemoglobin, hematocrit, and RBC count could indicate polycythemia vera, a myeloproliferative disorder. However, the iron studies would need to be further evaluated to confirm this diagnosis. + Chronic Inflammation: Elevated ferritin can also be seen in chronic inflammation, which could be due to various underlying conditions such as rheumatoid arthritis or chronic infections.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.) + Leukemia: Although the WBC count is within normal limits, the differential count shows a slight increase in neutrophils and monocytes. Leukemia, particularly chronic myeloid leukemia (CML) or chronic lymphocytic leukemia (CLL), should be considered and ruled out with further testing. + Lymphoma: The elevated lymphocyte count, although not significantly high, warrants consideration of lymphoma, particularly if there are other symptoms such as lymphadenopathy or weight loss.
  • Rare diagnoses + Porphyria Cutanea Tarda: This rare genetic disorder can cause iron overload and elevated ferritin levels. However, it is less likely given the absence of other characteristic symptoms such as skin blistering or neurological abnormalities. + Aceruloplasminemia: This rare genetic disorder affects iron metabolism and can cause iron overload, but it is extremely rare and would require further testing to confirm.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.