Spectrum of Mutations Associated with Hereditary Erythrocytosis
نویسندگان
چکیده
منابع مشابه
Erythrocytosis associated with hepatocellular carcinoma.
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...
متن کاملHereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations.
BACKGROUND Hereditary paraganglioma-pheochromocytoma syndromes (PGL/PCC) are rare tumors arising from neuroendocrine cells. METHODS AND RESULTS The proband, a 59-year-old white man and his 42-year-old elder son had a medical history of bilateral carotid body PGL and both presented for treatment of abdominal PGLs. His 36-year-old daughter had excision of recurrent malignant carotid body PGL an...
متن کاملMutations in TITF-1 are associated with benign hereditary chorea.
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. In contrast to Huntington disease (MIM 143100), BHC is non-progressive and...
متن کاملthe spectrum of mitochondrial dna mutations in iranian lebers hereditary optic neuropathy patients
we studied 74 patients with lebers hereditary optic neuropathy (lhon) to investigate causative mtdna mutations (g3460a, g11778a, t14484c, g4459a) in iranian lhon patients. fifty two patients carried the mitochondrial dna (mtdna) g11778a mutation, while one had the t14484c mutation 4 patients had the g3460a mutation and one had the g14459a mutation. our results showed a similarity in the pattern...
متن کاملErythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state.
Inherited mutations in the erythropoietin receptor (EPOR) causing premature termination of the receptor cytoplasmic region are associated with dominant familial erythrocytosis (FE), a benign clinical condition characterized by hypersensitivity of erythroid progenitor cells to EPO and low serum EPO (S-EPO) levels. We describe a Swedish family with dominant FE in which erythrocytosis segregates w...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Blood
سال: 2015
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v126.23.2140.2140