Congenital erythrocytosis
نویسندگان
چکیده
منابع مشابه
Congenital erythrocytosis.
INTRODUCTION Congenital erythrocytosis is by definition present from birth. Patients frequently present in childhood or as young adults and a family history may be present. The erythrocytosis can be primary where there is a defect in the erythroid compartment of secondary where increased erythropoietin production produced due to the defect leads to an erythrocytosis. MATERIAL AND METHODS Prim...
متن کاملGenetic basis of congenital erythrocytosis: mutation update and online databases.
Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels. Primary congenital familial erythrocytosis is associated with low erythropoietin (Epo) levels and results from mutations in the Epo receptor ge...
متن کاملMolecular genetic analyses in familial and sporadic congenital primary erythrocytosis.
Dominant mutations in the erythropoietin receptor (EPOR) gene account for only about 15% of cases of primary congenital erythrocytosis. To search for molecular alterations in patients with this disorder. Sixteen patients with Epo <10 mU/mL were studied, 3 were related. Analyses included EPOR and JAK2 gene sequencing, quantitative PRV-1 RT-PCR, and erythroid colony assays. A novel sporadic EPOR ...
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I N A PREVIOUS STUDY, it was shown that erythrocytosis was present in 11.7 per cent of southern Chinese patients with hepatocellular carcinoma but that the mechanism of production remained obscure.’ Plasma erythropoiesis-stimulating factor ( ESF ), assayed on the fasted rat, was not increased in four subjects studied. Subsequent reports of the existence of erythrocytosis in hepatocellular carci...
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During the study of an inbred strain of Wistar rats which spontaneously develop hypertension when they reach a weight of approximately 150 g, it was found that these animals also develop an erythrocytosis. A significant increase in red cell count was observed in spontaneously hypertensive (SH) rats (8-11 x 10(6) RBC/mm(3)) when compared with normotensive rats (6-7 x 10(6) RBC/mm(3)) of the same...
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ژورنال
عنوان ژورنال: International Journal of Laboratory Hematology
سال: 2016
ISSN: 1751-5521
DOI: 10.1111/ijlh.12506