Differential Diagnosis for Low Hemoglobin (H) and Hematocrit (Hct) with Normal Iron and Ferritin in an Asian Individual

• Single Most Likely Diagnosis
  • Anemia of Chronic Disease (ACD): This is a common cause of anemia, especially in individuals with chronic conditions such as chronic kidney disease, rheumatoid arthritis, or chronic infections. Normal iron and ferritin levels do not rule out ACD, as the body may have adequate iron stores, but the iron is not being utilized effectively due to the chronic disease process.
• Other Likely Diagnoses
  • Thalassemia: Given the patient's Asian background, thalassemia trait should be considered. Thalassemia can cause a microcytic anemia with low H&H, and iron and ferritin levels may be normal or even elevated due to increased iron absorption.
  • Anemia of Chronic Kidney Disease: This condition can lead to a normocytic anemia due to decreased erythropoietin production by the kidneys. Iron and ferritin levels can be normal, especially if the patient is not receiving erythropoiesis-stimulating agents.
  • Chronic Blood Loss: Although iron and ferritin are normal, chronic blood loss can lead to anemia. The body may compensate for the loss by increasing iron absorption, maintaining normal iron stores.
• Do Not Miss Diagnoses
  • Hemoglobinopathy (e.g., Hemoglobin E disease): Certain hemoglobinopathies are more prevalent in Asian populations and can cause significant anemia. These conditions may not be immediately life-threatening but can significantly impact quality of life.
  • Myelodysplastic Syndrome (MDS): Although less common, MDS can present with anemia and normal iron studies. It's crucial to consider this diagnosis, especially in older adults, due to its potential for progression to acute leukemia.
  • Gastric Cancer: In some Asian populations, gastric cancer is more prevalent and can cause chronic blood loss leading to anemia. Early detection is critical for treatment outcomes.
• Rare Diagnoses
  • Sideroblastic Anemia: This is a rare condition characterized by the presence of ringed sideroblasts in the bone marrow. It can be congenital or acquired and may present with normal or elevated iron and ferritin levels.
  • Pernicious Anemia: Although more common in Caucasian populations, pernicious anemia due to vitamin B12 deficiency can occur in anyone. It's a rare cause of anemia in Asians but should be considered, especially if there are neurological symptoms.
  • Paroxysmal Nocturnal Hemoglobinuria (PNH): A rare, acquired, life-threatening disease of the blood characterized by the destruction of red blood cells, bone marrow failure, and the potential for thrombotic events.