Phenotype-Genotype Spectrum of Stomatocytic Disorders Encountered in India Using Next Generation Sequencing

ConclusionsStomatocytic disorders appear to be underdiagnosed in India which is compounded by the protean clinical manifestations, milder phenotypes, low index of suspicion and non-availability of molecular confirmation. Astute phenotype characterization is critical as it will help in establishing the causality of the variants identified and appropriate genetic counseling. Recently NGS for hemolytic anemias has led to rapid molecular characterization and accurate phenotypic correlation.DisclosuresNo relevant conflicts of interest to declare.

Source: Blood - November 21, 2018 Category: Hematology Authors: Das, R., Jamwal, M., Aggarwal, A., Sharma, P., Maitra, A., Bansal, D., Malhotra, P. Tags: 101. Red Cells and Erythropoiesis, Structure and Function, Metabolism, and Survival, Excluding Iron: Poster II Source Type: research