Article
Next-Generation Sequencing-Based Diagnosis of Unexplained Inherited Hemolytic Anemias Reveals Wide Genetic and Phenotypic Heterogeneity.
The Journal of molecular diagnostics : JMD - 1 Apr 2020
Jamwal Manu, Aggarwal Anu, Palodhi Arindam, Sharma Prashant, Bansal Deepak, Trehan Amita, Malhotra Pankaj, Maitra Arindam, Das Reena
Abstract excerpt
Determination of the cause of inherited hemolysis is based on clinical and stepwise conventional laboratory tests. Patients with obscure etiology require genetic diagnosis, which is time-consuming, expensive, and laborious, mainly because of numerous causal genes. This study enrolled 43 patients with clinical and laboratory evidence of unexplained hemolytic anemia. Initially, 13 patients were tested using a...
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