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LOVD-DASH: A Comprehensive LOVD Database Coupled with Diagnosis and an At-risk Assessment System for Hemoglobinopathies

Li Zhang  Qian-Qian Zhang  Pei-Kuan Cong  Yu-Hua Ye  Shi-Ping Chen  Xin-Hua Zhang  Yan Chen  Bao-Sheng Zhu  Wang-Wei Cai  Shao-Ke Chen  Ren Cai  Xiao-Ling Guo  Chong-Lin Zhang  Yu-Qiu Zhou  Jie Zou  Yan-Hui Liu  Bi-Yan Chen  Shan-Huo Yan  Ya-Jun Chen  Hong-Mei Ding  Yue-Hong Zhou  Jian-Mei Zhong  Xia-Rong Li  Dian-Yu Chen  Xuan Shang  Xuan-Zhu Liu  Ming Qi  Xiang-Min Xu  
【摘要】:Background: Hemoglobinopathies are the most common monogenic disorders worldwide. The major β-hemoglobinopathies, especially sickle cell disease and β-thalassemia, are lethal hemoglobinopathies that have caused global health burdens due to their serious pathogenicity and high prevalence.Previous observations involving hemoglobin switching have shown that elevated fetal hemoglobin expression ameliorates the severity of β-hemoglobinopathies Thus, an accurate diagnosis of hemoglobinopathies calls for not only the proper genotyping of the disease-causing mutations in globin gene clusters, but also newly identified variants in modifier genes, such as KLF1, BCL11 A, and GATA1, which are responsible for altered expression of γ-globin and also influence β-thalassemia severity. Method: We present herein a comprehensive variant database of hemoglobinopathies focusing on aChinese population, recording the details of all reported variants through literature peer reviewcuration and existing databases. Moreover, unpublished data from our laboratory, including all the phenotype-genotype datasets derived from high-throughput sequencing data of 2,087 hemoglobinopathy patients and 20,222 general southern Chinese individuals, were also merged into the database. The addition of 18 novel functional variants from these genes has been detected using this high-throughput approach. The database was integrated into the Leiden Open Variation Database(LOVD). An online diagnosis and at-risk assessment system for inherited hemoglobinopathy(DASH) has also been established based on the following:(i) the integrity of the hemoglobinopathy mutation spectrum of a Chinese population;(ii) the availability of a comprehensive phenotype-genotype dataset corresponding to the 22,309 samples; and(iii) the detailed information of variants according to the latest version of HbVar. Result: Variations in globin genes [HBA1(MIM 141800), HBA2(MIM 141850), HBB(MIM 141900), HBG1(MIM 142200), HBG2(MIM 142250), and HBD(MIM 142000)] and non-globin genes [BCL11 A(MIM 606557), KLF1(MIM 600599), and GATA1(MIM 305371)], as well as the intergenic region of HMIP(MIM 142470), were categorized into disease-causing and modifiers, and would be accepted as key words to perform literature mining on hemoglobinopathies. Currently, 355 unique variants have been recorded; 265 of the 355 unique variants were described as disease-causing variants, while 90 were defined as modifier variants, including 18 functional variants identified by a quantitative trait association study of the high-throughput sequencing data. Discussion: In this study we portrayed the most comprehensive mutation spectrum of hemoglobinopathies in a Chinese population. In addition, LOVD-DASH will make a contribution in research and clinical application and provide a new method for treatment and precaution of hemoglobinopathies in Chinese patients.

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