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International Journal of Hematology

, Volume 106, Issue 1, pp 135–137 | Cite as

First case report of hemophilia B Leyden in Japan

  • Atsuki YamashitaEmail author
  • Chiai Nagae
  • Mika Mori
  • Tomoko Ashikaga
  • Tetsuhito Kojima
  • Masashi Taki
Case Report
  • 407 Downloads

Abstract

Hemophilia B Leyden is a unique subtype of hemophilia B, characterized by increasing factor IX activity (FIX:C) after puberty and a lower normal range of FIX:C throughout adulthood. However, to date, no Japanese case has been reported. Here, we report a case of hemophilia B Leyden in a 22-year-old male. He suffered from subgaleal hematoma, and was subsequently diagnosed with hemophilia B (FIX:C 0.2%) in the neonatal period. Both his parents are Japanese. There was no history of hemophilia in his family. FIX:C gradually increased with age (8% at age = 1; 14% at age = 7; 19% at age = 12; 32% at age = 18). FIX:C is within the range 30–40% in recent several years. He once required administration of FIX concentrate against traumatic tongue bleeding at 7 years of age. Genotyping analysis of FIX was performed after informed consent at 21 years of age, and a point mutation (c.–35G>A) was detected. This mutation has been reported previously as the Leyden mutation. Although it has been reported that hemophilia B Leyden is seen in 1.9% of patients with hemophilia B, the present case is the first report of hemophilia B Leyden from Japan.

Keywords

Hemophilia B Leyden mutation Japanese 

Notes

Compliance with ethical standards

Conflict of interest

The authors stated that they do not have any conflict of interest with respect to the content of the manuscript.

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Copyright information

© The Japanese Society of Hematology 2017

Authors and Affiliations

  1. 1.Department of PediatricsSt. Marianna University School of MedicineKawasakiJapan
  2. 2.Department of PediatricsSt. Marianna University School of Medicine, Yokohama City Seibu HospitalYokohamaJapan
  3. 3.Department of Pathophysiological Laboratory SciencesNagoya University Graduate School of MedicineNagoyaJapan

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