{"title":"筛选血红蛋白病：卓越中心镰状细胞病的初步经验。","authors":"Anita Vishnoi, Ritvika Jyani, Ayushi Sharma, Lakhan Poswal, Shuchi Goyal, Shelesh Kumar Swami, Nitesh Kumar Chauhan","doi":"10.1007/s13312-025-00178-3","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To estimate the prevalence of various hemoglobinopathies among newborns, women in antenatal clinic and children presenting with signs and symptoms suggestive of sickle cell disease (SCD).</p><p><strong>Methods: </strong>A hospital-based prospective study was conducted at a Centre of Excellence for SCD (COESCD). Dried blood spot (DBS) samples were collected for newborn screening using heel-prick and venous samples were used in the post-neonatal age group. Hemoglobin variant analysis was performed using high-performance liquid chromatography (HPLC).</p><p><strong>Results: </strong>Out of 26,642 neonates screened, 1.87% (n = 498) were found to have abnormal hemoglobin patterns. The prevalence of hemoglobin variants detected among women screened during antenatal check-up and children with signs and symptoms of SCD were found to be 6.11% and 22.69%, respectively.</p><p><strong>Conclusion: </strong>Intensive screening programs have led to detection of a large number of cases with hemoglobinopathies including rare hemoglobin variants.</p>","PeriodicalId":13291,"journal":{"name":"Indian pediatrics","volume":" ","pages":""},"PeriodicalIF":1.5000,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Screening for Hemoglobinopathies: An Inceptive Experience of Centre of Excellence for Sickle Cell Disease.\",\"authors\":\"Anita Vishnoi, Ritvika Jyani, Ayushi Sharma, Lakhan Poswal, Shuchi Goyal, Shelesh Kumar Swami, Nitesh Kumar Chauhan\",\"doi\":\"10.1007/s13312-025-00178-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To estimate the prevalence of various hemoglobinopathies among newborns, women in antenatal clinic and children presenting with signs and symptoms suggestive of sickle cell disease (SCD).</p><p><strong>Methods: </strong>A hospital-based prospective study was conducted at a Centre of Excellence for SCD (COESCD). Dried blood spot (DBS) samples were collected for newborn screening using heel-prick and venous samples were used in the post-neonatal age group. Hemoglobin variant analysis was performed using high-performance liquid chromatography (HPLC).</p><p><strong>Results: </strong>Out of 26,642 neonates screened, 1.87% (n = 498) were found to have abnormal hemoglobin patterns. The prevalence of hemoglobin variants detected among women screened during antenatal check-up and children with signs and symptoms of SCD were found to be 6.11% and 22.69%, respectively.</p><p><strong>Conclusion: </strong>Intensive screening programs have led to detection of a large number of cases with hemoglobinopathies including rare hemoglobin variants.</p>\",\"PeriodicalId\":13291,\"journal\":{\"name\":\"Indian pediatrics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2025-09-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Indian pediatrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s13312-025-00178-3\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s13312-025-00178-3","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
Screening for Hemoglobinopathies: An Inceptive Experience of Centre of Excellence for Sickle Cell Disease.
Objective: To estimate the prevalence of various hemoglobinopathies among newborns, women in antenatal clinic and children presenting with signs and symptoms suggestive of sickle cell disease (SCD).
Methods: A hospital-based prospective study was conducted at a Centre of Excellence for SCD (COESCD). Dried blood spot (DBS) samples were collected for newborn screening using heel-prick and venous samples were used in the post-neonatal age group. Hemoglobin variant analysis was performed using high-performance liquid chromatography (HPLC).
Results: Out of 26,642 neonates screened, 1.87% (n = 498) were found to have abnormal hemoglobin patterns. The prevalence of hemoglobin variants detected among women screened during antenatal check-up and children with signs and symptoms of SCD were found to be 6.11% and 22.69%, respectively.
Conclusion: Intensive screening programs have led to detection of a large number of cases with hemoglobinopathies including rare hemoglobin variants.
期刊介绍：
The general objective of Indian Pediatrics is "To promote the science and practice of Pediatrics." An important guiding principle has been the simultaneous need to inform, educate and entertain the target audience. The specific key objectives are:
-To publish original, relevant, well researched peer reviewed articles on issues related to child health.
-To provide continuing education to support informed clinical decisions and research.
-To foster responsible and balanced debate on controversial issues that affect child health, including non-clinical areas such as medical education, ethics, law, environment and economics.
-To achieve the highest level of ethical medical journalism and to produce a publication that is timely, credible and enjoyable to read.
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