Five novel globin gene mutations identified in five Chinese families by next-generation sequencing.

ABSTRACT:

Background

Thalassemia is one of the most common inherited diseases worldwide. This report presents three novel cases of α-thalassemia and two novel cases of β-thalassemia caused by five different mutations in the globin gene.

Methods

Next-generation sequencing (NGS) was used to identify novel α- and β-thalassemia in five individuals, which was confirmed by Sanger sequencing of the globin gene. Hematological parameters were determined by an automated cell counter, and hemoglobin electrophoresis was carried out by a capillary electrophoresis system, respectively. The isoelectric point (pI), molecular weight, and conservation for the mutations were described by the Internet software programs. The pathogenicity for globin mutations was analyzed by bioinformatics analysis and re

SUBMITTER: Zhang J 

PROVIDER: S-EPMC8683637 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature