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

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. Long-distance polymerase chain reaction was used to detect intron inversions, and next-generation sequencing gene panels were used to identify small sequence variants. 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. 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.