Article
A case of primary familial congenital polycythemia with a novel EPOR mutation: possible spontaneous remission/alleviation by menstrual bleeding.
International journal of hematology - 1 Sept 2018
Toriumi Naohisa, Kaneda Makoto, Hatakeyama Naoki, Manabe Hiromi, Okajima Kazuki, Sakurai Yukari, Yamamoto Masayo, Sarashina Takeo, Ikuta Katsuya, Azuma Hiroshi
Abstract excerpt
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...
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