Factor 11 single-nucleotide variants in women with heavy menstrual bleeding

In a previous study it was shown that lower factor XI (FXI) levels in women with heavy menstrual bleeding (HMB). Our aim was to determine the single-nucleotide variants (SNVs) in the <i>F11</i> gene in women with HMB. In addition, an extensive literature search was performed to determine the clinical significance of each SNV. Patients referred for HMB (PBAC-score &gt;100) were included. With direct sequencing analysis of all 15 exons and flanking introns of the <i>F11</i> gene, 29 different non-structural SNVs were detected in 49 patients with HMB. Interestingly, most of these SNVs have previously been associated with venous thrombosis instead of bleeding. These findings have not helped to elucidate the molecular basis of HMB. They also question the specificity of previously reported <i>F11</i> variations in patients with thrombosis. More studies are needed to explain the lower FXI levels seen in patients with HMB.IMPACT STATEMENTWomen with mild deficiencies of factor XI (FXI) (In light of these findings, we performed <i>F11</i> gene analysis to determine the single-nucleotide variants (SNVs) in women with HMB and performed an extensive literature search to determine the clinical significance of each SNV. By direct sequencing analysis of the <i>F11</i> gene we found 29 different non-structural SNVs in 49 women with heavy menstrual bleeding. Remarkably, a number of these SNVs have previously been implicated in thrombosis.These findings have not helped to elucidate the molecular basis of lower FXI levels in HMB. They also question the specificity of previously reported <i>F11</i> variations in patients with thrombosis. More studies are needed to explain the lower FXI levels seen in patients with HMB. Women with mild deficiencies of factor XI (FXI) ( In light of these findings, we performed <i>F11</i> gene analysis to determine the single-nucleotide variants (SNVs) in women with HMB and performed an extensive literature search to determine the clinical significance of each SNV. By direct sequencing analysis of the <i>F11</i> gene we found 29 different non-structural SNVs in 49 women with heavy menstrual bleeding. Remarkably, a number of these SNVs have previously been implicated in thrombosis. These findings have not helped to elucidate the molecular basis of lower FXI levels in HMB. They also question the specificity of previously reported <i>F11</i> variations in patients with thrombosis. More studies are needed to explain the lower FXI levels seen in patients with HMB.