Master's in Genetic Counseling (MGC)

Hemoglobinopathies in West Virginia

Hemoglobinopathy screening is performed only by request in the state of West Virginia. Screening for hemoglobinopathies in the state of West Virginia is performed by isoelectric focusing of hemoglobin from the filter paper blood spot. Hemoglobin bands are identified by their migration in an electric field. Diagnostic testing should consist of an alternative method than that used for the initial screen.

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

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
FA	normal newborn	none
AF	normal infant (age dependent)	none
ND	not definitive	A repeat filter paper specimen is recommended as soon as possible.
FAV	FA plus unidentified Hb variant	Referral to a pediatric hematology consultant for identification of the hemoglobin variant is recommended. A confirmatory test must be performed using an alternative method from that used for the initial screen.
FAS, FAC, FAE	Hb S probable trait, Hb C probable trait, HbE probable trait, respectively	It is up to the discretion of the attending physician and to the family to confirm the trait using an alternative method from that used for the initial screen. Genetic counseling for parents of children born with a hemoglobin trait is recommended.
FA plus Bart’s	possible microcytic anemia (alpha thalassemia)	none
FS, FSC, FC, FE, FF	screen positive for probable hemoglobin disease	Referral to a pediatric hematology consultant is recommended for confirmatory testing using an alternative method from that used for the initial screen.
A	transfused infant	A repeat filter paper specimen is recommended at 3-4 months after the last transfusion. Send the repeat specimen to the state lab.

 

ABBREVIATIONS

• F=fetal hemoglobin
• S=sickle hemoglobin
• V=unidentified hemoglobin
• A=adult hemoglobin
• C=hemoglobin C
• E=hemoglobin E

 

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