A case of primary familial congenital polycythemia with a novel EPOR mutation: possible spontaneous remission/alleviation by menstrual bleeding

  • Naohisa Toriumi
  • Makoto Kaneda
  • Naoki Hatakeyama
  • Hiromi Manabe
  • Kazuki Okajima
  • Yukari Sakurai
  • Masayo Yamamoto
  • Takeo Sarashina
  • Katsuya Ikuta
  • Hiroshi Azuma
Case Report
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Abstract

A 10-year-old girl with persistent erythrocytosis and ruddy complexion was diagnosed with primary familial congenital polycythemia (PFCP) involving a novel heterozygous mutation of c.1220C>A, p.Ser407X in exon 8 of the erythropoietin receptor gene (EPOR). This mutation causes truncation of EPOR, resulting in loss of the cytoplasmic region, which is necessary for negative regulation of erythropoietin signal transmission. Genetic analysis showed that the mutated EPOR was inherited from her mother. Her mother had polycythemia and had undergone venesection several times when she was young, but her polycythemic state appeared to have resolved. Venesection was not needed to maintain Hct levels within normal range. For the case reported here, venesection was also conducted to maintain the blood Hct level below 50%. We observed that after the patient experienced menarche, the volume and frequency of venesection needed to maintain Hct level < 50% were clearly reduced compared with those before menarche. These findings suggest that, in female patients with this type of EPOR mutation, menstruation might reduce blood volume in a manner similar to venesection. Spontaneous remission of erythrocytosis may thus occur after the start of menstrual bleeding.

Keywords

PFCP EPOR Menarche Menstruation Phlebotomy 

Notes

Acknowledgement

We thank Ms. Nami Iguchi for her technical assistance in conducting DNA sequence analysis of EPOR.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© The Japanese Society of Hematology 2018

Authors and Affiliations

  • Naohisa Toriumi
    • 1
  • Makoto Kaneda
    • 3
  • Naoki Hatakeyama
    • 1
  • Hiromi Manabe
    • 4
  • Kazuki Okajima
    • 1
  • Yukari Sakurai
    • 1
  • Masayo Yamamoto
    • 2
  • Takeo Sarashina
    • 1
  • Katsuya Ikuta
    • 2
  • Hiroshi Azuma
    • 1
  1. 1.Department of PediatricsAsahikawa Medical UniversityAsahikawaJapan
  2. 2.Division of Gastroenterology & Hematology/Oncology, Department of MedicineAsahikawa Medical UniversityAsahikawaJapan
  3. 3.Sapporo Tokushukai HospitalSapporoJapan
  4. 4.Asahikawa Kousei HospitalAsahikawaJapan

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