نتایج جستجو برای: sideroblastic anemia
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Low-risk myelodysplastic syndromes (MDS), including refractory anemia and sideroblastic anemia, are characterized by increased apoptotic death of erythroid progenitors. The signaling pathways that elicit this pathologic cell death in MDS have, however, remained unclear. Treatment with erythropoietin in combination with granulocyte colony-stimulating factor (G-CSF) may synergistically improve th...
X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5-aminolevulinate synthase 2 (ALAS2). Here, we report five families with XLSA owing to mutations in a GATA transcription factor binding site located in a...
The "early-labeled" peak (ELP) of 14CO excretion following injection of glycine-2-14C was used to study erythropoiesis in a patient with sideroblastic anemia and in four subjects with myeloproliferative disorders. The ELP was greatly enlarged in all patients, as compared with a normal volunteer. The contour of the peaks from the hematologically abnormal subjects suggested the presence of increa...
Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and a missense mutation of the ALAS2 gene is associated with congenital sideroblastic anemia. However, the gene responsible for this form of anemia remains unclear in about 40% of patients. Here, we identify a novel erythroid-specific enhancer of 130 base pairs in the firs...
An improved radiochemical method to measure the o-aminoJevulinic acid (ALA) synthetase activity in human bone marrow erythroblasts by incubating bone marrow cell homogenate with 14C-succinate and succinyl CoA generating system has been reported. Studies were made to obtain the optimal conditions for the enzyme assay and to confirm the reliability of the assay procedures. ALA-synthetase in eryth...
CHEST, VOL. 57, NO. 4, APRIL 1970 that the platelet count might fall further with iron therapy.11 This was not observed (Fig 1). Thrombocytopenia has apparently not been reported in this situation. In the seven previously reported patients with sideroblastic anemia associated with similar antituberculous drugs, the platelet counts were normal2’3 or not mentioned.1 In these patients, the anemia ...
Introduction We observed a syndrome characterized by recurrent fever, severe anemia, gastrointestinal symptoms, and a spectrum of immunologic and neurologic symptoms in five children from four unrelated families. Neurologic manifestations ranged from mild developmental delay to nystagmus, spasticity, optic nerve atrophy, and sensorineural hearing loss. Sideroblastic anemia was identified by bon...
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