نتایج جستجو برای: hemoglobinopathies
تعداد نتایج: 1591 فیلتر نتایج به سال:
BACKGROUND Hemoglobin electrophoresis (HBE) is a part of the preoperative routine requested by anesthetists. However, the prevalence of hemoglobinopathy in the population is low. This study aims to determine the clinical risk factors for hemoglobinopathies and propose clinical guidelines for preoperative screening of patients for pediatric day care surgery. PATIENTS AND METHODS A prospective ...
Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed. We validated the assay by using 2522 subjects affected with hemoglobinopathies and appli...
BACKGROUND Thalassemia syndromes are highly prevalent in Southeast Asia. In Thailand, high performance liquid chromatography (HPLC) is the most common technique routinely performed in diagnosis of thalassemia and hemoglobinopathies, while isoelectric focusing (IEF) is rarely employed. We compared the diagnostic utility of IEF and HPLC in neonatal screening for thalassemia and non-sickling hemog...
Context: Hemoglobinopathies and thalassemias are one of the most common genetic abnormalities prevalent in India and the Middle East. Aim: This study was performed to identify the distribution of abnormal types of hemoglobin (Hb) in a tertiary care diagnostic laboratory. Materials and Methods: An observational study was conducted in the Department of Hematology in a tertiary care diagnostic lab...
Introduction: Neonatal hyperbilirubinemia is a common disorder and if untreated is potentially neurotoxic. Methods: In order to investigate the correlation between hyperbilirubinemia and hemoglobinopathies, in a prospective study we studied a total 100 full term neonates at Nemazi Hospital with total bilirubin greater than 15 mg/dl and direct bilirubin less than 1.5mg/dl. Other known causes o...
This study utilized the integrated theoretical model (ITM) to assess strategies to ameliorate screening for sickle hemoglobinopathies in the age of genomic medicine. Also discussed, is the relevance of predictive, preventive, personalized and participatory interventions. Comparison was made between universal and targeted screening. The international guidelines for neonatal screening were reiter...
In the treatment of hemoglobinopathies, amending altered hemoglobins and/or globins produced in excess is an important part of therapeutic strategies and the selective inhibition of globin production may be clinically beneficial. Therefore the development of drug-based methods for the selective inhibition of globin accumulation is required. In this study, we employed peptide nucleic acids (PNAs...
Background. Extramedullary hematopoiesis is most often seen in reticuloendothelial organs specially spleen, liver, or lymph nodes, and it is rarely seen in lung parenchyma. Almost all reported cases of pulmonary extramedullary hematopoiesis occurred following myeloproliferative disorders specially myelofibrosis. Other less common underlying causes are thalassemia syndromes and other hemoglobino...
Coexistence of thalassemia, hemoglobinopathies and malaria has interested geneticists over many decades. The present study represents such a population from the eastern Indian state of Orissa. Children and their siblings (n=38) were genotyped for β-thalassemia mutations and genotype-phenotype correlation was determined. The major genotype was IVS 1.5 mutation: 26% homozygous (n=10) and 37% (n=1...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید