Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.

ABSTRACT: Hereditary anemias are a group of heterogeneous disorders including hemolytic anemias and hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA). Causative mutations occur in a wide range of genes leading to deficiencies in red cell production, structure, or function. The genetic screening of the main genes is important for timely diagnosis, since routine laboratory tests fail in a percentage of the cases, appropriate treatment decisions, and genetic counseling purposes. A conventional gene-by-gene sequencing approach is expensive and highly time-consuming, due to the genetic complexity of these diseases. To overcome this problem, we customized a targeted sequencing panel covering 35 genes previously associated to red cell disorders. We analyzed 36 patients, and potentially

SUBMITTER: Svidnicki MCCM 

PROVIDER: S-EPMC7241966 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature