Article
Primary HBB gene mutation severity and long-term outcomes in a global cohort of β-thalassaemia.
British journal of haematology - 1 Jan 2022
Musallam Khaled M, Vitrano Angela, Meloni Antonella, Addario Pollina Sebastiano, Di Marco Vito, Hussain Ansari Saqib, Filosa Aldo, Ricchi Paolo, Ceci Adriana, Daar Shahina, Vlachaki Efthymia, Singer Sylvia T, Naserullah Zaki A, Pepe Alessia, Scondotto Salvatore, Dardanoni Gabriella, Karimi Mehran, El-Beshlawy Amal, Hajipour Mahmoud, Bonifazi Fedele, Vichinsky Elliott, Taher Ali T, Sankaran Vijay G, Maggio Aurelio
Abstract excerpt
In β-thalassaemia, the severity of inherited β-globin gene mutations determines the severity of the clinical phenotype at presentation and subsequent transfusion requirements. However, data on associated long-term outcomes remain limited. We analysed data from 2109 β-thalassaemia patients with available genotypes in a global database. Genotype severity was grouped as β0 /β0 , β0 /β+ , β+ /β+ , β0 /β++ , β+ /β++ ,...
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