Spectrum of pathogenic alterations identified after two decades of HBB gene sequencing for molecular diagnosis of beta-thalassaemias and haemoglobinopathies

MeSH terms

• Hemoglobinopathies / diagnosis
• Hemoglobinopathies / genetics*
• Hemoglobinopathies / pathology
• Humans
• Mutation / genetics
• Pathology, Molecular / methods
• beta-Globins / genetics*
• beta-Thalassemia / diagnosis
• beta-Thalassemia / genetics*
• beta-Thalassemia / pathology