Pilot study of Newborn screening for hemoglobinopathies in South Gujarat India

描述（由申请人提供）：血红蛋白病是世界范围内发病率和过早死亡的主要病例。据估计，印度每年有1万多名重度地中海贫血婴儿活产，5 200多名镰状细胞病婴儿活产，血红蛋白病已成为印度的一个主要公共卫生问题。新生儿筛查（NBS）可以通过促进早期开始青霉素预防和纳入综合护理，显著降低镰状细胞病（SCD）的发病率和死亡率。然而，针对血红蛋白病或其他遗传和代谢疾病的国家统计局主要是在发达国家高度结构化的卫生系统中实施的。在印度，SCD在被归类为计划部落的土著人口中最为普遍，他们普遍处于社会经济劣势，生活在农村或森林地区。古吉拉特邦人口众多，是第一个启动全面血红蛋白病计划的州。该项目是一项印美合作项目，由匹兹堡儿童医院和奥克兰儿童医院、孟买免疫血液学研究所的研究人员、Valsad Raktadan Kendra和古吉拉特邦镰状细胞病治疗和控制计划的研究人员合作开展，旨在在南古吉拉特邦试点新生儿血红蛋白病筛查。具体目标：测试在古吉拉特邦南部部落地区建立新生儿镰状细胞病筛查和随访方案的可行性。2 .确定将诊断为镰状细胞病的无症状婴儿纳入综合护理的可行性。检查新生儿筛查随访和基因检测的可接受性，并为NBS检测到的血红蛋白病提供咨询。我们将结合高通量实验室筛查方法、系统随访、标准化临床护理、综合实验室和儿童健康信息系统跟踪患者护理、电信绕过基础设施和社会行为研究的差距，以确定NBS和血红蛋白病随访的可行性、有效性和可接受性。国家统计局将针对列入计划的部落的土著人民，他们在该地区血红蛋白病的携带者频率非常高，居住在半城市、农村或森林地区，经常流动，社会经济劣势普遍存在。这些研究的结果将为发展普遍的新生儿筛查和对血红蛋白病的综合护理提供基础。这也将成为印度其他遗传和代谢疾病的国家统计局的一个模型，并产生可能对向弱势群体提供初级卫生保健和其他慢性疾病的疾病管理方案有用的见解。

DESCRIPTION (provided by applicant): Hemoglobinopathies are a major case of morbidity and premature mortality worldwide. With an estimated over 10,000 live birth each year of infants with Thalassemia major and 5,200 live births of infants with sickle cell disease each year, hemoglobinopathies have emerged as a major public health problem in India. Newborn screening (NBS) can dramatically reduce morbidity and mortality from sickle cell disease (SCD) by facilitating early initiation of penicillin prophylaxis and enrollment in comprehensive care. However, NBS for hemoglobinopathies or other genetic and metabolic diseases has primarily been implemented in highly structured health systems in developed countries. In India, SCD is most prevalent in indigenous populations classified as scheduled tribes who have a high prevalence of socioeconomic disadvantage and who live in rural or forested regions. Gujarat state with large population of scheduled tribes is the first state to initiate a comprehensive hemoglobinopathies program. This project is a Indo-US collaboration between investigators at Children's Hospital of Pittsburgh and Children's hospital of Oakland and the Institute of Immunohematology, Mumbai and Valsad Raktadan Kendra and Gujarat State sickle cell disease treatment and control program, Valsad to pilot newborn screening for hemoglobinopathies in South Gujarat. Specific aims are 1. Test the feasibility of establishing a newborn screening and follow-up program for sickle cell disease in the tribal regions of south Gujarat. 2. Determine the feasibility of enrolling asymptomatic infants diagnosed with sickle cell disease in comprehensive care and 3. Examine the acceptability of newborn screening follow-up and genetic testing and counseling for hemoglobinopathies detected on NBS. We will combine high throughput laboratory screening methods, systematic follow-up, standardized clinical care, integrated laboratory and child health informatics system for tracking patient care, telecommunication to bypass gaps in infrastructure and socio- behavioral studies to determine the feasibility, efficacy and acceptability of NBS and follow-up for hemoglobinopathies. NBS will be targeted to the indigenous peoples of the scheduled tribes, in this region who have a very high carrier frequency of hemoglobinopathies, live in semi-urban, rural or forested regions, are frequently mobile and have high prevalence of socioeconomic disadvantage. Results of these studies will provide the basis for developing universal newborn screening, and comprehensive care for hemoglobinopathies, India. This will also serve as a model for NBS for other genetic and metabolic disorders in India, as well as generate insights that may be useful in the delivery of primary health care to disadvantaged sections and disease management programs for other chronic disorders. Sickle cell disease is an inherited disorder of hemoglobin which can be rapidly fatal in infancy be cause of infection by a bacterium called pneumococcus. Screening of newborns for this disease leads to early diagnosis and initiation of prophylaxis with penicillin and comprehensive care and a dramatic reduction in suffering and early death from this disease. In this collaboration with investigators from India and the USA we propose to adapt a successful model of newborn screening in the USA to pilot newborn screening and comprehensive care for sickle cell disease among a rural disadvantaged indigenous population in Gujarat State of India.