New article published: De Mazancourt et al., 2023

Congratulations to Pr. De Mazancourt and his collaborators for the publication in the journal Haemophilia of their article on the unidentified genetic causes of factor XI deficiency. We are proud to have contributed to the success of this article.

Hemophilia is a serious hereditary disease in which the blood is unable to clot. There are several types of hemophilia, the two main ones being hemophilia A and hemophilia B, due to a deficiency of coagulation factors VIII and IX, respectively. Hemophilia C, or Rosenthal's disease, is a mild and rarer form due to a deficiency of factor XI. Unlike hemophilia A and B, it is not gender-specific. The molecular mechanisms behind this type of hemophilia are still very poorly understood.

Genetic sequencing analyses have been performed on the DNA of patients with factor XI deficiency in order to detect deletions of genetic variants or segments at the origin of this deficiency. Out of the 504 cases studied, a genetic abnormality was identified in 95% of patients, including 14 with a complete deletion of the gene encoding factor XI or of certain exons.

The high incidence of deletions identified in this study (2.9%) suggests that genetic sequencing analyses should be routinely performed to investigate unidentified factor XI deficiencies.

The article is already available on the journal's website! doi: 10.1111/hae.14666