Molecular Characterization of Factor VIII Gene Variants in Hemophilia A: A Genotype-Haplotype Study from Eastern and Northern-Central India.

doi:10.7150/ntno.119985

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Molecular Characterization of Factor VIII Gene Variants in Hemophilia A: A Genotype-Haplotype Study from Eastern and Northern-Central India.

Nanotheranostics - 1 Jan 2026

Hemaliya Chanda, Singh Arun Kumar, Bharti Anju, Ali Akhtar, Meena Lalit Prashant

Abstract excerpt

Rationale: Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency or dysfunction of factor VIII (FVIII), affecting approximately 1 in 5,000 males globally, including those in northern India. Accurate carrier detection is vital for genetic counseling and early diagnosis. This study aimed to assess the allele frequencies of three key intronic polymorphisms-IVS7-SNP (G/A), rs4898352 (T/A) in...

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PMID: 42099969
DOI: 10.7150/ntno.119985
PMCID: PMC13143521

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