PubMed · 714825
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T Ratajczak, Z Szewczyk. [Hageman factor. Present-day views].. https://pubmed.ncbi.nlm.nih.gov/714825/
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Factor XI deficiency is an autosomal bleeding disorder of variable severity. It is particularly common in the Ashkenazi Jewish population, the result of two founder mutations - E117X and F283L. Recent studies have shown the causative mutations of Factor XI deficiency, outside the Ashkenazi Jewish population, to be highly heterogeneous. We have studied 116 index cases, mostly from an ethnically diverse UK population, in order to better understand the spectrum of mutations responsible for factor XI deficiency. A total of 140 causative mutations of the F11 gene were identified in 109 patients. Fifty-five (39.3%) of the mutations were one of three common mutations--E117X (Type II), F283L (Type III), or C128X. The remaining 85 (60.7%) mutations comprised at least 57 variants including 31 novel mutations and whole gene deletions. This large study reconfirms that, despite the presence of founder mutations in discrete populations, factor XI deficiency remains a highly heterogeneous disease at the molecular level. .
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BACKGROUND AND OBJECTIVES: In patients with factor XI(FXI) deficiency the bleeding tendency is poorly correlated with plasma factor levels. The purpose of this study was to evaluate whether or not this discrepancy is also present in a large series of patients from Iran, a previously unexplored ethnic group. DESIGN AND METHODS: In 28 FXI - deficient patients bleeding symptoms and their relation to FXI levels were compared with those of 100 patients with factor VIII (FVIII)deficiency (classic hemophilia), matched for severity of factor deficiency. RESULTS: Spontaneous bleeding was definitely less frequentin FXI deficiency than in hemophilia, whereas postoperative and post-traumatic bleeding occurred with comparable frequencies. Among FXI-deficient patients the severity of symptoms was poorly correlated with FXI levels, mildly deficient patients bleeding almost as frequently as those severely deficient. In contrast, in patients with classic hemophilia there was a close relation between the severity of bleeding and degree of FVIII deficiency. INTERPRETATION AND CONCLUSIONS: As in other ethnic groups, in Iranians factor XI deficiency is less severe than classic hemophilia and the bleeding tendency is poorly correlated to plasma factor levels.