2024 Volume 61 Issue 5 Pages 397-400
Hemophilia A (HA) is a representative hemorrhagic disorder caused by X-linked recessive inheritance. In Japan, there are >5,000 patients with HA, mostly men. Conversely, heterozygous females with pathogenic alleles who lack hemorrhagic symptoms were recognized as “hemophilia carriers.” Recent studies have demonstrated that “hemophilia carriers” can be symptomatic and those who have significantly decreased coagulation activity should be referred as women/girls with hemophilia. Here, we report the case of a girl with non-severe HA without inhibitors that was effectively treated with emicizumab. A limited number of Japanese women/girls with HA have been reported and were mainly treated with factor VIII concentrates. Since “hemophilia carriers” have varying degrees of hemorrhagic tendencies, individualized management should be considered. More experience and evaluation of emicizumab use in “hemophilia carriers” are needed.
