Differential Diagnosis for High Ferritin and Iron with Normal Hemoglobin, Low MCV, and MCH

• Single Most Likely Diagnosis
  • Hemochromatosis: This genetic disorder leads to excessive iron absorption, resulting in elevated ferritin and iron levels. Despite the iron overload, hemoglobin levels can remain normal, and the condition often presents with microcytic anemia (low MCV) due to the toxic effects of iron on erythropoiesis.
• Other Likely Diagnoses
  • Chronic Inflammation: Conditions like rheumatoid arthritis or chronic infections can cause an increase in ferritin due to its role as an acute-phase reactant. The inflammation can also lead to anemia of chronic disease, which may present with low MCV and MCH.
  • Frequent Blood Transfusions: Repeated transfusions, especially in patients with conditions like thalassemia major, can lead to iron overload. Although hemoglobin levels may be maintained within a normal range due to the transfusions, MCV and MCH can be low due to the underlying disease process.
• Do Not Miss Diagnoses
  • Hemosiderosis: Similar to hemochromatosis but often acquired through excessive iron intake or repeated transfusions. It's crucial to identify and manage to prevent long-term organ damage.
  • Porphyria Cutanea Tarda: A disorder of porphyrin metabolism that can lead to increased iron absorption and skin manifestations. It's less common but important to diagnose due to its potential for significant morbidity.
• Rare Diagnoses
  • Aceruloplasminemia: A rare genetic disorder characterized by iron accumulation in the brain and other organs, leading to neurological symptoms and elevated ferritin levels. It's essential to consider in patients with unexplained neurological findings and iron overload.
  • Congenital Atransferrinemia: A rare condition where the body cannot produce transferrin, a protein that binds iron in the blood. This leads to excessive iron accumulation and can present with elevated ferritin and iron levels, despite potentially having normal or low hemoglobin levels.