Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.

ABSTRACT: The hereditary anemias are a relatively heterogeneous set of disorders that can show wide clinical and genetic heterogeneity, which often hampers correct clinical diagnosis. The classical diagnostic workflow for these conditions generally used to start with analysis of the family and personal histories, followed by biochemical and morphological evaluations, and ending with genetic testing. However, the diagnostic framework has changed more recently, and genetic testing is now a suitable approach for differential diagnosis of these patients. There are several approaches to this genetic testing, the choice of which depends on phenotyping, genetic heterogeneity, and gene size. For patients who show complete phenotyping, single-gene testing remains recommended. However, genetic analysis now in

SUBMITTER: Russo R 

PROVIDER: S-EPMC7783452 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature