Spectrum of Factor VIII Gene Variants in 78 Patients with Hemophilia A in Guangxi Province, China, Including Nine Novel Variants：A Descriptive Study

Introduction: Hemophilia A is an X-linked hereditary bleeding disorder caused by variants in the coagulation factor VIII (F8) gene, with a current estimated prevalence of 17.1 per 100,000 males.
Methods: Long-distance polymerase chain reaction was used to detect intron inversions, and next-generation sequencing gene panels were used to identify small sequence variants.
Results: Fifty-two different F8 variants were identified in 78 patients from unrelated families, including single-nucleotide alterations (missense, nonsense), frameshifts (small deletions/insertions), splicing-site changes, complex variations, and large rearrangements (Inv22 or Inv1). The nine variants reported here for the first time consisted of two missense variants, two nonsense variants, four frameshifts, and a splicing alteration.
Conclusion: The Factor Ⅷ Gene mutation spectrum of patients with hemophilia A from Guangxi Province was established, and genotype–phenotype correlations were explored. This study will contribute data to the present F8 mutation database and help systematically draw the mutation spectrum of the hemophilia A gene in southern China.