科研之友
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摘要
Hemophilia B is an inherited bleeding disorder caused by mutations in the F9 gene, located on the X chromosome at position Xq27 [1]. In 1970, Veltkamp et al. described a rare form of hemophilia B, known as hemophilia B Leiden, distinguished by low levels of factor IX ( FIX) in childhood and loss of the hemophilia phenotype following puberty [2,3]. The mechanism of recovery in hemophilia B Leiden is controversial and is the subject of ongoing research. In the present case, we observed an unintended and dramatic rise in FIX levels after anabolic steroid use in a man with hemophilia B Leiden. This case lends additional support to the hypothesis that it is androgen that drives the increase in FIX expression in hemophilia B Leiden.
- 出版日期2012-1
