Article
Co-inheritance of HBB:c.-106G > C, a rare single nucleotide variation at position -56 relative to transcription initiation site, with other known mutations in the globin clusters.
Hematology (Amsterdam, Netherlands) - 1 Jul 2018
Vinciguerra Margherita, Passarello Cristina, Cassarà Filippo, Leto Filippo, Cannata Monica, Ferro Elisa, Anzà Davide, Calvaruso Giuseppina, Maggio Aurelio, Giambona Antonino
Abstract excerpt
OBJECTIVES: We performed molecular analysis to evaluate clinical implications of a rare nucleotide change, particularly when co-inherited with other known mutations in the globin clusters, in order to conduct an appropriate genetic counselling. METHODS: Complete blood cell counts and high-performance liquid chromatography were the routine first level analysis for patients referred to our Hospital Center in...
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