2006
DOI: 10.1111/j.1600-0609.2006.00653.x
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Absence of mutations of the EPO‐receptor gene in Greek patients with familiar polycythemia

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Cited by 7 publications
(7 citation statements)
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“…These patients show, low serum EPO levels, normal haemoglobin oxygen affinities, and erythroid progenitors that exhibit EPO hypersensitivity [26]. Clinically, PFCP patients may present with symptoms ranging from headaches, dizziness, epistaxis, exertional dyspnea to pruritis after bathing [27]. Moreover, thrombotic and hemorrhagic events with premature morbidity and mortality have been reported [28], [29].…”
Section: Introductionmentioning
confidence: 99%
“…These patients show, low serum EPO levels, normal haemoglobin oxygen affinities, and erythroid progenitors that exhibit EPO hypersensitivity [26]. Clinically, PFCP patients may present with symptoms ranging from headaches, dizziness, epistaxis, exertional dyspnea to pruritis after bathing [27]. Moreover, thrombotic and hemorrhagic events with premature morbidity and mortality have been reported [28], [29].…”
Section: Introductionmentioning
confidence: 99%
“…For example, in a study of 43 unrelated PFCP subjects, only five (12%) of the patients had EPOR mutations (Kralovics & Prchal, 2001). In another study, no mutation in the EpoR cytoplasmic domain was detected in PFCP patients from eight families of Greek origin (Bourantas et al, 2006). A caveat on the prevalence of EPOR mutations in PFCP was raised by Skoda and Prchal (2005).…”
Section: Other Unidentified Mutations In Pfcpmentioning
confidence: 99%
“…The natural history of PFCP shows no propensity to leukemic transformation nor is development of other myeloproliferative neoplasms observed (Prchal, 2005). Clinically, PFCP patients may present with symptoms ranging from headaches, dizziness, epistaxis, exertional dyspnea to pruritis after bathing (Bourantas et al , 2006). Thrombotic and hemorrhagic events with premature morbidity and mortality have been reported (Queisser et al , 1988; Prchal et al , 1995), but many appear to have a benign clinical course (Prchal et al , 1985; Juvonen et al , 1991; Emanuel et al , 1992).…”
Section: Erythrocytosismentioning
confidence: 99%
“…Short-term rhEPO induces HbF synthesis in vitro [33], in non-pregnant patients with thalassaemia or sickle cell disease [34][35][36][37][38][39] and in pregnant patients with thalassaemia [12]. Even high doses are well tolerated.…”
Section: Recombinant Human Hrythropoietinmentioning
confidence: 99%