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Newborn Screening ACT Sheet

[FAV]
Hemoglobin V (Variant)

Differential Diagnosis: This result is different from FAS which is consistent with sickle carrier.

Condition Description: : Generally benign genetic carrier state (trait) characterized by the presence of fetal hemoglobin (F), and hemoglobin A and V. The hemoglobins are listed in order of the amount of hemoglobin present (F>A>V).

YOU SHOULD TAKE THE FOLLOWING ACTIONS:

  • Contact family to inform them of the screening result and to reassure them that these individuals usually do not have clinical problems.
  • Do complete blood count (CBC) and reticulocyte count and repeat at 6 months.
  • Order hemoglobin profile analysis (usually performed by electrophoresis).
  • Offer family members referral for genetic evaluation and counseling.
  • Report findings to newborn screening program.


Diagnostic Evaluation:

CBC and reticulocyte count. Hemoglobin separation by electrophoresis, isoelectric focusing, or high performance liquid chromatography (HPLC), shows FAV. DNA studies may be used to confirm genotype.

Clinical Considerations:

Infants are usually normal at birth. Carriers of certain Hb variants (e.g. HbD-Los Angeles, Hb O- Arab) are at risk for having children affected by sickle cell disease. Counseling at reproductive age should be considered. Consultation with an expert in hemoglobin disorders should be considered if CBC or reticulocyte count are abnormal.

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