Master's in Genetic Counseling (MGC)

Hemoglobinopathies in New Jersey

Screening for hemoglobinopathies in the state of New Jersey is performed by isoelectric focusing to separate the hemoglobin present in the dried blood spot. The initial specimen is applied to the agarose gel and specimens with bands that fall in the S, C, and other variant focusing points are confirmed by High Performance Liquid Chromatography.

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

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
FA	normal	none
FS, FSC, FV, FSV, FSB+, FE, F, FC, FDB+, FD, FG	abnormal hemoglobin pattern	It is recommended that a repeat specimen be obtained at 4 weeks of age. Referral to a pediatric hematology consultant is also strongly recommended.
FAS, FAC, FAV, FAE, FAD, FAG, FASV, FACV	hemoglobin trait	A repeat specimen is requested at 6 months of age. It is recommended that the family be referred for genetic counseling and possible testing.
A, AF	transfusion	A repeat filter paper specimen is requested 4 months after the last transfusion.
unsatisfactory specimen	-	A repeat filter paper specimen is requested within 2 days.

 

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