Newborn Screening for Conditions Other Than SCD

Screening ResultsPossible ConditionsClinical Manifestations
Nonsickle hemoglobinopathies
    F onlyPreterm infantRepeat screening necessary
Homozygous β0-thalassemiaSevere thalassemia
    FEEEMicrocytosis with mild or no anemia
E β0-thalassemiaMild to severe anemia
    FCCCMild microcytic hemolytic anemia
C β0-thalassemiaMild microcytic hemolytic anemia
    FCAC β+-thalassemiaMild microcytic hemolytic anemia
α-Thalassemia syndromes
    FA + Bart'saα-Thalassemia silent carrierNormal complete blood cell count
α-Thalassemia minorMicrocytosis with mild or no anemia
HbH diseaseMild to moderately severe microcytic hemolytic anemia
HbH Constant SpringModerately severe hemolytic anemia
    FAS + Bart'sα-Thalassemia with structural Hb variantClinical manifestations, if any, depend on the structural variant (eg, HbE) and severity of α-thalassemia
    FAC + Bart's
    FAE + Bart's
    FE + Bart's
Hemoglobinopathy carriers
    FASSickle cell traitNormal complete blood cell count; generally asymptomatic
    FACHbC carrierNo anemia; asymptomatic
    FAEHbE carrierNormal or slightly decreased MCV without anemia; asymptomatic
    FA OtherOther Hb variant carrierDepends on variant; most without clinical or hematologic manifestations
  • a Hemoglobin Bart's, a tetramer of γ-globulin, is present in infants with α-thalassemia.

  • Modified from: National Heart, Lung, and Blood Institute. Neonatal screening. In: The Management of Sickle Cell Disease. Washington, DC: National Institutes of Health; 2002:7–14. NIH publication No. 02-2117.