Genotypic Characterization of Hemoglobinopathies in Azerbaijan: A Review of 10 Years at a Referral Center.

Abstract excerpt

Hemoglobinopathies constitute a major cause of hereditary anemia and remain a significant public health challenge in Azerbaijan. The purpose of this study was to delineate the variant spectrum and genotype distribution in a large national cohort and to evaluate the contribution of next-generation sequencing (NGS) to molecular diagnosis. During the study period, 1,000 unrelated individuals with suspected...

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