Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis

ConclusionAll the newly discovered gene coding region mutation sites detected are the suspected pathogenic causes of the 28 Chinese children. At the same time, the second ‐generation gene sequencing technology is an effective means to diagnose HS. Different mutation types and different mutation regions have no significant correlation with the severity of anemia. The novel gene mutation sites in 28 children studied in this paper have not yet been included in the hum an genome database, dbSNP (v138), or ExAC database. The new gene mutations found in HS children can provide a theoretical basis for further exploring the genetic causes of HS in Chinese children.

Source: Molecular Genetics & Genomic Medicine - February 23, 2021 Category: Genetics & Stem Cells Authors: Fei Xie, Lei Lei, Bin Cai, Lu Gan, Yu Gao, Xiaoying Liu, Lin Zhou, Jinjin Jiang Tags: ORIGINAL ARTICLE Source Type: research