AB034. Hemoglobinopathies in China and SEA: rapid targeted deep sequencing for molecular screening and clinical genotyping in subjects with hemoglobinopathies

Abstract: Hemoglobin disorder is one of the most common birth defects in the world. α and β thalassemia are prevalent in tropical and subtropical regions. The imbalance of α and β hemoglobin is the pathological mechanism and the base of clinical classification of α and β thalassemia. In Southern China, 17 gross deletions account for 70-80%, and 13 point mutations, for 20-30% of α-thalassemia. Fifty-two point mutations account for 97% for β-thalassemia. Six deletions cause δβ-thalassemia or HPFH. Fetal hemoglobin levels are regulated by multiple modifier genes which influences the severity of thalassemia. NGS technology helps significantly the effectiveness of molecular diagnosis and better understanding of the diseases.

Keywords: Hemoglobin disorders; hemoglobinopathies; molecular screening; genotype