The Japanese Journal of Pediatric Hematology / Oncology
Online ISSN : 2189-5384
Print ISSN : 2187-011X
ISSN-L : 2187-011X
Medical care for carriers of hemophilia
—carrier testing, carrier check-up and perinatal management
Rie Shirayama, Orie Ono, Takuma Ito, Koichi Oshida, Tetsuji Sato, Michio Sakai, Koichi Kusuhara, Akira Shirahata
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2019 Volume 56 Issue 3 Pages 275-281

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Abstract

Nowadays, medical care for patients with hemophilia has progressed. On the other hand, medical care for carriers of hemophilia is still insufficient, despite the fact that more than 20% of them are considered to meet the diagnostic criteria of hemophilia. Conventionally, the aim of carrier testing is to assess the possibility of having a child with hemophilia. Accordingly, only 20% of patients with hemophilia have female relatives who had their factor VIII or IX concentration measured in our institution. Henceforth, factor assays should be performed for all carriers and female relatives suspected of being carriers to protect themselves from bleeding. For perinatal management, cooperation among experts in various fields is important. Concerning the mode of delivery, it has been reported that cesarean section (CS) is associated with a reduced risk of intracranial hemorrhage (ICH) in newborns with hemophilia compared with spontaneous vaginal delivery. However, there are some cases of ICH caused by CS, and mothers undergoing CS also have the risk of bleeding. Under these circumstances, we should sufficiently discuss the mode of delivery with the expectant mother and her family, and this should be mutually agreed upon by the family and the medical team. The risk of ICH is lower in hemophiliac infants whose mothers are known to be carriers. From this viewpoint, medical care should be expanded for carriers and females suspected of being carriers. Medical care for carriers should include not only carrier testing but also sharing knowledge of hemophilia, psychosocial care, and medical examination.

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© 2019 The Japanese Society of Pediatric Hematology / Oncology
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