نتایج جستجو برای: β thalassemia
تعداد نتایج: 195979 فیلتر نتایج به سال:
background: hemoglobinopathy and thalassemia are prevalent genetic disorders throughout the world. beta thalassemia is one of these disorders with high prevalence in iran, especially in khuzestan province. in this study, the rate of different mutations in β-globin gene for prenatal diagnosis in fetal samples was evaluated. materials and methods: in this experimental pilot study, 316 fetal sampl...
Similar to other forms of non-transfusion-dependent thalassemia, the diagnosis of β-thalassemia intermedia is associated with a state of iron overload. This occurs in the absence of regular transfusion therapy and is primarily attributed to increased intestinal iron absorption signaled by ineffective erythropoiesis and low serum hepcidin levels. Although iron accumulation in transfusion-indepen...
Increased HbA2 is a characteristic finding in minor beta thalassemia. Minor β-thalassemia is a heterozygote form of β-thalassemia that carries thalassemia genes but does not cause thalassemia disease. Diagnosis of carriers is done by CBC, RBC Index, and HbA2 test. Very few cases of people with minorthalassemia have a normal HbA2. According to the results of this pilot study it seams that percen...
The β-thalassemias are characterized by a quantitative deficiency of β-globin chains underlaid by a striking heterogeneity of molecular defects. Although most of the molecular lesions involve the structural β gene directly, some down-regulate the gene through distal cis effects, and rare trans-acting mutations have also been identified. Most β-thalassemias are inherited in a Mendelian recessive...
Objectives: Eβ-thalassemia, the most serious form of HbE syndromes, may develop pre-diabetes (PD) and diabetes mellitus (DM), together constituting abnormal glucose homeostasis (AGH) as an endocrinopathy. This study aims to assess AGH prevalence pathogenesis in this thalassemia subtype. Material Methods: A cross-sectional was conducted at a tertiary care hospital from February 2017 December 201...
β-thalassemia is a common inherited disorder worldwide including southern China, and at least 45 distinct β-thalassemia mutations have been identified in China. High-resolution melting (HRM) assay was recently introduced as a rapid, inexpensive and effective method for genotyping. However, there was no systemic study on the diagnostic capability of HRM to identify β-thalassemia. Here, we used a...
background: β-thalassemia considers worldwide public health disorders. novel fetal hemoglobin inducer agents such as thalidomide and sodium butyrate have been attended for ameliorating clinical complications of such disorders. material and methods: we used thalidomide and sodium butyrate for increasing the level of fetal hemoglobin in erythroid progenitors. briefly, after isolation of cd133+ st...
purpose: to report concomitant angioid streaks and skin lesions in a patient with β thalassemia. patient and findings: a 47-year-old female, a known case of b thalassemia, presented with gradual decrease of vision in her right eye. on indirect ophthalmoscopy of both eyes, angioid streaks were detected. on fluorescencin angiography, hyperfluorescence of streaks without signs of choroidal neovasc...
a cross-sectional controlled study of gonadal function and pubertal development in thalassemia major
early and regular blood transfusion therapy in patients with homozygous beta-thalassemia decreases the complications of severe anemia and prolongs survival. in the long term, however, the beneficial effects of transfusions are limited by the organ damage resulting from iron overload. endocrine complications in patients with thalassemia major in developing countries may be frequent due t o subop...
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