Article
Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin.
Hemoglobin - 1 Sept 2016
Harteveld Cornelis L, Pissard Serge, Korver Anna M H, Riou Jean, Legac Eric, Lansbergen Gideon, Pardijs Inge L, Giordano Piero C, Versteegh Florens G A
Abstract excerpt
We report two families, members of which are carriers of a novel hemoglobin (Hb) variant that was named Hb Olivet [α13(A11)Ala→Thr (α1) (GCC > ACC); HBA1: c.40G > A; p.Ala14Thr]. The analysis of these cases allowed a clear description of this anomaly that behaves as a silent Hb. In the first family, of Portuguese ethnicity living in France, the proband, a 24-year-old male and his 57-year-old mother, both appeared...
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