Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant

Key Points

• This research aims to explore the effectiveness of family and high-risk screening for Fabry disease, focusing on the GLA IVS4 + 919G > A variant.
• Conducted screening among high-risk populations in Ninghai County
• Analyzed genotype-phenotype correlations related to the GLA IVS4 + 919G > A variant
• Focused on late-onset Fabry disease cases
• Found high prevalence of the GLA IVS4 + 919G > A variant in late-onset cases
• Identified diverse phenotypes linked to the variant
• Demonstrated the effectiveness of screening for early diagnosis and intervention