"Hemoglobinopathy: Hematologic and Molecular Characteristics in Shanghai, Eastern China"

Abstract

Hemoglobinopathies are common inherited diseases in southern China. The aim of the present study is to analyze the hematologic and molecular features of hemoglobinopathies in Shanghai, in order to provide a reference data for screening hemoglobinopathies. A total of 1029 samples were studied using High Performance Liquid Chromatography (HPLC) on the Bio-Rad Variant II HPLC system. GAP-PCR and reverse dot blot (RDB) were used to detect globin gene mutation or deletion. DNA sequencings for Alpha Globin gene (HBA1/A2) and Beta Globin gene (HBB) were simultaneously performed. We found that among 1029 samples, beta-thalassemia was the predominant type of hemoglobinopathy (39.16%). Six (0.58%) cases of beta-thalassemia major and 397 (38.58%) cases of beta-thalassemia carriers were identified. Among those beta-thalassemia samples, a total of 19 mutations were found, among which the β 654 /β N mutation (168/1029,16.33%) was the main type, followed by the β 41-42 /β N mutation (118/1029,11.47%). There were 136 (13.22%) cases of alpha-thalassemia (silent carrier & minor) and 39 (3.79%) cases of HbH disease. A total of 10 gene mutations were found in the alpha-thalassemia samples, among which the main genotype of deletion α-thalassemia was --SEA /αα(119/1029,11.56%), while non-deletion α-thalassemia was uncommon in our report(2/1129,0.19%) both of which was α WS α/αα. The main genotype of HbH was --SEA /-α 3.7 (28/1029, 2.72%). In 13 (1.26%) cases of αβ-thalassemia, with a total of 9 genotypes were found, among which the more common genotypes were -α 3.7 / β 654 , --SEA/β 41-42 and --SEA/β 17 . The ten main structural hemoglobin variants of 14 (1.36%) cases were Hb E

Explainable AI Method for Tinnitus Diagnosis via Neighbor-Augmented Knowledge Graph and Traditional Chinese Medicine: Development and Validation Study (Preprint)

“…Together with the EMR knowledge graph, a complete tinnitus knowledge graph was developed. The knowledge we selected came from 2 classic Chinese medicine textbooks [26,27], from which we extracted basic concepts related to tinnitus including TCM syndromes, prescriptions, Chinese medicinal herbs, and treatment methods to construct the TCM knowledge graph.…”