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International Journal of Hematology

, Volume 79, Issue 3, pp 235–237 | Cite as

E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever

  • Yasuko Kotone-Miyahara
  • Akifumi Takaori-Kondo
  • Keiko Fukunaga
  • Masashi Goto
  • Yasuaki Hayashino
  • Makoto Miki
  • Hiroshi Takayama
  • Masataka Sasada
  • Takashi Uchiyama
Progress in hematology

Abstract

We describe 3 unrelated Japanese patients with familial Mediterranean fever (FMF) due to a compound heterozygous E148Q/M694I mutation in the MEFV gene.The first patient is a 38-year-old man who also has chronic myelogenous leukemia (CML). Because genomic DNA analysis of the patient’s nail revealed the E148Q/M694I mutation, we concluded that the individual mutations were obtained congenitally. Interferon therapy was effective against not only the CML but also the FMF. The second patient is a 42-year-old man with consanguineous parents and a 14-year history of recurrent lower abdominal and back pain associated with fever. He successfully responded to colchicine treatment. The third patient is a 23-year-old woman who has a family history of FMF and since the age of 11 years has had recurrent chest and abdominal pain with fever. The onset of FMF was at an early age in this case, in contrast with the late onset of the disease in the first 2 cases. This patient’s mother also has a heterozygous M694I mutation and experienced the same symptoms until 30 years of age. Our data suggest that it should be recognized that there are more FMF patients in Japan than previously expected and that the frequency of the E148Q/M694I mutation may be significant in Japanese FMF patients.

Key words

MEFV Japan M694I E148Q Genetic analysis 

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Copyright information

© The Japanese Society of Hematology 2004

Authors and Affiliations

  • Yasuko Kotone-Miyahara
    • 1
  • Akifumi Takaori-Kondo
    • 1
  • Keiko Fukunaga
    • 1
  • Masashi Goto
    • 2
  • Yasuaki Hayashino
    • 4
  • Makoto Miki
    • 5
  • Hiroshi Takayama
    • 1
  • Masataka Sasada
    • 3
  • Takashi Uchiyama
    • 1
  1. 1.Department of Hematology and Oncology, Graduate School of MedicineKyoto UniversityKyotoJapan
  2. 2.Department of General Medicine and Clinical Epidemiology, Graduate School of MedicineKyoto UniversityKyoto
  3. 3.College of Medical TechnologyKyoto UniversityKyoto
  4. 4.Tenri HospitalNara
  5. 5.Sendai Red Cross HospitalMiyagiJapan

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