Article
Structural and Functional Insights on an Uncharacterized Aγ-Globin-Gene Polymorphism Present in Four β0-Thalassemia Families with High Fetal Hemoglobin Levels.
Molecular diagnosis & therapy - 1 Apr 2016
Bianchi Nicoletta, Cosenza Lucia Carmela, Lampronti Ilaria, Finotti Alessia, Breveglieri Giulia, Zuccato Cristina, Fabbri Enrica, Marzaro Giovanni, Chilin Adriana, De Angelis Gioia, Borgatti Monica, Gallucci Cristiano, Alfieri Cecilia, Ribersani Michela, Isgrò Antonella, Marziali Marco, Gaziev Javid, Morrone Aldo, Sodani Pietro, Lucarelli Guido, Gambari Roberto, Paciaroni Katia
Abstract excerpt
INTRODUCTION: Several DNA polymorphisms have been associated with high production of fetal hemoglobin (HbF), although the molecular basis is not completely understood. In order to identify and characterize novel HbF-associated elements, we focused on five probands and their four families (from Egypt, Iraq and Iran) with thalassemia major (either β(0)-IVSII-1 or β(0)-IVSI-1) and unusual HbF elevation (>98 %),...
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