Article
The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C].
Hemoglobin - 1 Jan 2020
Mondesert Etienne, Giansily Blaizot Muriel, Tournilhac Olivier, Sapin Anne François Serre, Aubin Bernard, Pellequer Jean-Luc, Aguilar Martinez Patricia
Abstract excerpt
Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C] is a rare β-globin gene variant that was previously described in the heterozygous state in a 24-year-old female patient. It is defined in the HbVar database as being clinically and biologically asymptomatic. A few years after the first description, we had an opportunity of reassessing the index case because she presented with splenomegaly and clinical and biological...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.