Dilemma of identifying congenital hemolytic anemias in primary care

Anemia, the overall reduction of red blood cell (RBC) mass in an individual, occurs as a result of an underlying condition. It is probably the most common pathological state worldwide and can be acute, chronic, congenital, or acquired. It can be placed in one of three broad categories: blood loss, hypoproliferative, and hemolytic. The most common and easiest to correct is hypoproliferative anemia caused by nutritional deficiencies. The most common genetic anemias are caused by mutations on the alpha- or beta-globin genes, but there are other mutations that alter red cell membrane function or decrease the bone marrow's ability to manufacture RBCs. Understanding the mechanisms of anemia can help providers interpret the symptom(s)/presentation and guide the clinical workup. Nurse practitioners, especially those in primary care, should be able to recognize when a microcytic anemia is not caused by iron deficiency because these anemias are not corrected by iron supplementation and will need additional workup and referral to hematology.