Master's in Genetic Counseling (MGC)

Hemoglobinopathies in Delaware

Screening for hemoglobinopathies in the state of Delaware is performed by isoelectric focusing to estimate the relative concentration of the various hemoglobins in the dried blood spot. Diagnostic testing will be arranged with appropriate hemoglobinopathy laboratories.

The follow-up recommendations for hemoglobinopathy screens in the state of Delaware are as follows:

Newborn Screening Result Interpretation Follow-Up Action Recommended
FA normal none
FS (absence of A)
  • Sickle cell anemia
  • Sickle β0 thalassemia
Referral to a pediatric hematology consultant for diagnostic testing and possible treatment are recommended.
FSC (absence of A) Sickle C hemoglobin disease (hemoglobin SC disease) Referral to a pediatric hematology consultant for diagnostic testing and possible treatment are recommended.
FC (absence of A) hemoglobin C disease Diagnostic testing and possible treatment are recommended.
FE (absence of A)
  • homozygous hemoglobin E
  • hemoglobin E-β thalassemia
Referral to a pediatric hematology consultant for diagnostic testing and possible treatment are recommended.
FAS
  • hemoglobin S trait
  • S-β+ thalassemia (rarely)
  • Sickle cell anemia following transfusion
A repeat filter paper specimen is recommended.
FSA
  • S-β+ thalassemia
  • Sickle cell anemia following transfusion
A repeat filter paper specimen and referral to a pediatric hematology consultant are recommended.
FAC
  • hemoglobin C trait
  • hemoglobin C disease following a transfusion
A repeat filter paper specimen is recommended.
FA + slow band ("X") most commonly hemoglobin E, O, D, or G trait A repeat filter paper specimen and referral to an appropriate specialized hemoglobinopathy laboratory are recommended.
FA + fast band (Bart’s) Bart’s hemoglobin is a marker for an alpha thalassemia condition A repeat filter paper specimen is recommended.
F only
  • preterm infant
  • persistence of fetal hemoglobin
  • β thalassemia major
A repeat filter paper specimen and referral to a pediatric hematology consultant are recommended.
Predominance of A
  • transfused infant
  • patient outside of neonatal age range
A repeat filter paper specimen is recommended.

 

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