What question did this study set out to answer?

This research aims to explore the effectiveness of family and high-risk screening for Fabry disease, focusing on the GLA IVS4 + 919G > A variant.

February 8, 2026Open Access

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

Abstract

Screening high-risk populations and family screening is critical for early diagnosis and timely intervention in patients with Fabry disease. The GLA IVS4 + 919G > A variant is associated with diverse phenotypes of Fabry disease and is highly prevalent in late-onset cases in Ninghai County, Zhejiang Province, Eastern China.

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

Abstract

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