Anemia Differential Diagnosis

The differential diagnosis for anemia can be organized into the following categories:

• Single Most Likely Diagnosis
  • Iron deficiency anemia: This is the most common cause of anemia, especially in women of childbearing age, due to menstrual blood loss, and in individuals with gastrointestinal bleeding or poor dietary intake.
• Other Likely Diagnoses
  • Anemia of chronic disease: This form of anemia occurs in patients with chronic infections, inflammatory conditions, or malignancies, where the body's immune response leads to a decrease in the production of erythropoietin and a reduction in iron availability.
  • Vitamin deficiency anemia (B12 or folate deficiency): These deficiencies can lead to anemia due to impaired DNA synthesis in red blood cell production, often seen in individuals with poor dietary intake, malabsorption, or increased demand.
  • Anemia due to chronic kidney disease: Decreased erythropoietin production by the kidneys leads to a reduction in red blood cell production.
• Do Not Miss Diagnoses
  • Sickle cell disease: A genetic disorder that affects hemoglobin production, leading to abnormal red blood cells that can cause anemia, pain crises, and increased risk of infections.
  • Thalassemia major: A severe form of thalassemia, requiring regular blood transfusions, which can lead to iron overload and other complications if not managed properly.
  • Hemolytic anemia due to autoimmune disorders (e.g., autoimmune hemolytic anemia): Conditions where the immune system attacks and destroys red blood cells, which can be life-threatening if not promptly treated.
• Rare Diagnoses
  • Pernicious anemia: An autoimmune condition leading to vitamin B12 deficiency due to the lack of intrinsic factor, necessary for B12 absorption.
  • Hereditary spherocytosis: A genetic disorder affecting the red blood cell membrane, leading to premature destruction of red blood cells.
  • 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 blood clot formation.

Each diagnosis has a distinct set of laboratory findings and clinical presentations that guide the differential diagnosis. Laboratory tests such as complete blood count (CBC), reticulocyte count, iron studies, vitamin B12 and folate levels, and hemoglobin electrophoresis are crucial in narrowing down the differential diagnosis.