Master's in Genetic Counseling (MGC)

Hemoglobinopathies in Virginia

Screening for hemoglobinopathies in the state of Virginia is performed by Iso-Electric focusing. Confirmatory testing is performed using Iso-Electric focusing and High Pressure Liquid Chromatography on a second filter paper specimen. No other diagnostic testing is required.

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

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
F/A	normal - fetal and adult hemoglobin are both present with fetal hemoglobin in predominance	none
A/F	normal - adult hemoglobin present in slightly higher quantity than fetal hemoglobin for an infant that has not been transfused	none
A/F	Adult hemoglobin present in slightly higher quantity than fetal hemoglobin for an infant that has been transfused prior to collection of the specimen	A second filter paper specimen is required in 8 weeks.
F/S	Sickle cell disease	A repeat filter paper specimen is required. If the repeat is abnormal, the diagnosis is confirmed.
F/C	C Disease	A repeat filter paper specimen is required. If the repeat is abnormal, the diagnosis is confirmed.
F/S/C	SC Disease	A repeat filter paper specimen is required. If the repeat is abnormal, the diagnosis is confirmed.
F/S/E	SE Disease	A repeat filter paper specimen is required. If the repeat is abnormal, the diagnosis is confirmed.
F/S/D	SD Disease	A repeat filter paper specimen is required. If the repeat is abnormal, the diagnosis is confirmed.
F/S/A	other hemoglobinopathies - Thalassemia	A repeat filter paper specimen is required. If the repeat is abnormal, the diagnosis is confirmed.
F/A/S, F/A/C, F/A/E, F/A/D	various hemoglobin traits	Traits are confirmed off of a single sample. No follow-up is required.

 

All critical screening results are called out by the state laboratory to the Newborn Screening follow-up staff at the Virginia Department of Health. The follow-up staff will notify the appropriate consultant/physician.

 

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