Article
Co-inheritance of the rare β hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling.
European journal of haematology - 1 Apr 2015
Vinciguerra Margherita, Passarello Cristina, Leto Filippo, Cassarà Filippo, Cannata Monica, Maggio Aurelio, Giambona Antonino
Abstract excerpt
PURPOSE: Nearly 1183 different molecular defects of the globin genes leading to hemoglobin variants have been identified (http://globin.bx.psu.edu) over the past decades. The purpose of this study was to report three cases, never described in the literature, of co-inheritance of three β hemoglobin variants with other alterations in globin genes and to evaluate the clinical significance to conduct an appropriate...
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