Molecular surprises in evaluations of red cell disorders.

Abstract excerpt

Red cell disorders may present with overlapping clinical presentation and laboratory findings; in addition, complete phenotypic characterization of the patients' red cells is more challenging in the most severe cases, which are typically transfusion-dependent. The increasing availability of next-generation sequencing over the past 2 decades, initially with focused gene panels for certain disease groups, optimized...

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• Hematologic Diseases
• High-Throughput Nucleotide Sequencing
• Phenotype