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 of iron.

• 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: Reduced erythropoietin production by the kidneys leads to decreased 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 anemias (autoimmune hemolytic anemia, paroxysmal nocturnal hemoglobinuria): Conditions where red blood cells are destroyed faster than they can be made, which can be life-threatening if not promptly diagnosed and treated.
  • Lead poisoning: Can cause anemia due to its toxic effect on the bone marrow and red blood cells, often seen in children exposed to lead-based paints or in adults occupationally exposed.

• 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 early destruction of red blood cells.
  • Diamond-Blackfan anemia: A rare congenital condition characterized by a failure of the bone marrow to produce red blood cells.
  • Myelodysplastic syndromes: A group of disorders caused by poorly formed or dysfunctional blood cells, which can progress to acute myeloid leukemia.