Differential Diagnosis: Hemoglobin FCA pattern on newborn screen indicates Hb C beta plus thalassemia.
Condition Description: A red blood cell disorder characterized by presence of fetal hemoglobin (F) and hemoglobin C and hemoglobin A. The hemoglobins are listed in order of the amount of hemoglobin present (F>C>A).
YOU SHOULD TAKE THE FOLLOWING ACTIONS:
CBC, RBC, and MCV. Hemoglobin separation by electrophoresis, isoelectric focusing, or high performance liquid chromatography (HPLC), shows FCA pattern. DNA studies may be used to confirm genotype.
Infant is usually normal at birth. Individuals with HbC beta plus thalassemia have a variable degree of anemia and splenomegaly, depending on the specific + thalassemia mutation. The clinical manifestations range from mild to moderate hemolytic anemia and splenomegaly, resembling thalassemia intermedia in severe cases.