Early screening and a timely diagnosis are essential for β-thalassemia patients for the prevention and management of later clinical complications. However, in Africa, Southern Europe, the Middle East, and Southeast Asia, where β-thalassemia is most prevalent, the diagnosis and screening for β...
The presence of minute amounts of embryonic ζ-globin chains in adult hemolysates is a marker for carriers of α-thalassemia-1 resulting from (—SEA/) deletion. Recently, we developed a murine monoclonal antihuman embryonic ζ-globin chain antibody, 8E8. By using this antibody, we have now ...
The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease. Study of Asians has previously indicated that deletion of α-globin structural genes is the predominant lesion in α-thalassemias and that Hb H disease occ... H Lazarus...
Thalassemia and hemoglobinopathies are among the most common genetic disorders worldwide, affecting... Read more Devyser wins tender in Italy for its cystic fibrosis NGS test worth up to 5.4 million SEK Read more Webinar recap: Implementing Devyser BRCA to evaluate hereditary cancer risk ...
A screening test for beta-thalassemia trait carriers is carried out by mixing 10 &mgr;l of blood of the patient with 2 ml of an aqueous solution prepared from glycerol, sodium chloride, sodium dihydrogen phosphate, disodium hydrogen phosphate, sodium azide, Acid Green 5 to obtain a suspension...
HU has previously shown to acti- vate the fetal hemoglobin gene and has been used to treat patients with sickle cell disease and thalassemias. HU was shown to increase the amount of full-length transcript and protein in patient-derived lymphoblastoid cell lines and is cur- rently being used ...
Amplified DNA amplicons are then hybridized with the immobilized specific thalassemia probes located on the HybriMem under the patented“flow-through hybridization”technique.Enzyme immunoassay method is applied for color development in order to obtain test results to differentiate the patient is whether he...
In this article, we introduce a person-fit statistic called the hierarchy consistency index (HCI) to help detect misfitting item response vectors for tests... Hirsch,Glenn,S.,... - PS 被引量: 84发表: 2000年 Thalassemia and hemoglobinopathies in Southeast Asian newborns: diagnostic assessment...
C. et al. Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome. Epigenetics Chromatin 10, 10 (2017). Article PubMed PubMed Central Google Scholar Siu, M. T. et al. Functional DNA methylation signatures for autism spectrum disorder genomic ...
Bias-corrected diagnostic performance of the naked-eye single-tube red-cell osmotic fragility test (NESTROFT):an effective screening tool for beta-thalassemia. Mamtani M,Jawahirani A,Das K,et al. Hematology . 2006Mamtani M,Jawahirani A,Das K,et al.Bias -corrected diagnostic performance of the...