Elucidating the spectrum of alpha thalassemia mutations in iran

12-Mar-2020 12:43 by 6 Comments

Elucidating the spectrum of alpha thalassemia mutations in iran - tangowire all interracial dating

61 (59.2%) of these individuals represented thalassemia major and 42 (40.8%) thalassemia intermedia clinical phenotype.To re-evaluate our current diagnostic criteria, γ polymorphism and coexistence of alpha thalassemia mutations, frequently recalled as important factors modifying the clinical phenotype of homozygous beta zero thalassemia cases in our country, were examined in both groups.

elucidating the spectrum of alpha thalassemia mutations in iran-66elucidating the spectrum of alpha thalassemia mutations in iran-23

Posted in Amino acids, Anemia, Autism Spectrum Disorders, Behavioral Genetics, Best evidence, Biochemical pathways, Biological Networks, Bone Disease and Musculoskeletal Disease, Ca2 triggered activation, Calcium Signaling, Cell Biology, Cerebrovascular and Neurodegenerative Diseases, Chemical Biology and its relations to Metabolic Disease, Child and Adolescent Psychiatry, Chronic Thromboembolic Pulmonary Hypertension (CTEPH) and Pulmonary Arterial Hypertension (PAH), Congenital Heart DIsease, Curation, Cytoskeleton, Developmental biology, Diabetes Mellitus, Diagnostics and Lab Tests, Disease Biology, Embryology, Enzymes and isoenzymes, Explanatory, Fatty acids, Genetics & Pharmaceutical, Genome Biology, Health Economics and Outcomes Research, Hematology, Hematopoiesis, Historical relevance, Human Immune System in Health and in Disease, Inferential analysis, Innovations in Neurophysiology & Neuropsychology, Lipid metabolism, Liver & Digestive Diseases Research, Metabolism, Metabolomics, Microbiologial genetics, Molecular Genetics & Pharmaceutical, Mutant Gene Expression, Neurohumoral Transmission, Neurological Diseases, Neutropenia, Nitric Oxide in Health and Disease, Nutrition, Personalized and Precision Medicine & Genomic Research, Pharmacogenomics, Placenta, Proteins, Proteomics, Regenerative Biology and Medicine, Reproductive Andrology, Embryology, Genomic Endocrinology, Preimplantation Genetic Diagnosis and Reproductive Genomics, Schizophrenia, Severe Autism, Signaling, Signaling & Cell Circuits, Small Molecules in Development of Therapeutic Drugs, Social Development, Stem Cells for Regenerative Medicine, Synaptic vesicle, Systemic Inflammatory Response Related Disorders, Translational Effectiveness, Translational Research, Translational Science, tagged acute and chronic gastroenteritis, Alzheimers Disease, bilirubin toxicity, Congenital Heart Disease, fetal hemoglobin, genetics, hemochromatosis, hemoglobinopathies, hemolytic diseases, inborn errors of metabolism, intestinal microbiome, neonatal intensive care, oxygen dissociation curve, oxygen saturation, prematurity, pulmonary bronchodysplasia, thalassemia, very low birthweight on February 22, 2015| Leave a Comment » Writer and Curator: Larry H. Each inherited metabolic disorder is quite rare in the general population.In Al-Qatif and Al-Hassa oases in the Eastern Province of Saudi Arabia, the frequency of hemoglobin S and both -thalassemia has been reported to be high [13, 14].IVSII-1 (G T) mutations were found to be the most frequent.No statistically significant difference in the frequency of positive was observed in only one thalassemia major case.No statistically significant difference in the frequency of coinheritance of alpha thalassemia was observed between the two groups.On the basis of our results, we strongly recommend screening for the most common mutations to improve the molecular diagnosis of anemia in this region.

In this method, PCR amplification was carried out using biotinylated primers, followed by hybridization of the PCR product to a test strip containing allele-specific oligonucleotide probes immobilized as an array of parallel lines.

Gene frequency for thalassemia differs markedly among different populations, reaching 10% in certain areas.

From 362 thalassemia cases referred to adult thalassemia clinic of the Iranian blood transfusion organization (IBTO) for genotyping, 103 cases (28.5%) had a common primary disease factor, IVSII-1 mutation in homozygous state.

Cases with unknown molecular defects were investigated further by direct gene sequencing.

Finally, further study was done for probable unknown deletions by gene dosage analysis using real-time PCR.

In 21 out of 29 unknown cases (72.4%), the assay showed various patterns of deletions in at 2 to 5 screened regions (θ gene up to the upstream of alpha2 gene).