Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China.

ABSTRACT:

Objective

This study aims to provide a comprehensive summary of the clinical phenotypic characteristics of children with anemia of unknown etiology, particularly focusing on the early detection of hereditary spherocytosis (HS) and exploring genetic screening strategies for this condition in childhood.

Methods

The study included children with anemia whose underlying cause could not be definitively identified through routine clinical diagnosis. Clinical data was collected and genetic diagnosis of HS was confirmed using next-generation sequencing. Statistical analysis was conducted to evaluate the clinical characteristics of children with HS.

Results

A total of thirty children with unexplained anemia were included in the study, resulting in a gene detection diagnostic ra

SUBMITTER: Wu C 

PROVIDER: S-EPMC11782210 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature