{"title":"Haemoglobinopathies","authors":"","doi":"10.1093/med/9780198779186.003.0022","DOIUrl":null,"url":null,"abstract":"There are two categories of inherited haemoglobin disorders due to globin chain gene abnormalities. Sickle cell disorders are due to structurally abnormal haemoglobin molecules whilst the thalassaemia syndromes are caused by impaired haemoglobin A or B chain synthesis. This chapter describes their clinical features, presentations, complications, assessment, laboratory diagnosis and management.","PeriodicalId":347115,"journal":{"name":"Paediatric Haemotology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Paediatric Haemotology and Oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/med/9780198779186.003.0022","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract

There are two categories of inherited haemoglobin disorders due to globin chain gene abnormalities. Sickle cell disorders are due to structurally abnormal haemoglobin molecules whilst the thalassaemia syndromes are caused by impaired haemoglobin A or B chain synthesis. This chapter describes their clinical features, presentations, complications, assessment, laboratory diagnosis and management.
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由于珠蛋白链基因异常,有两类遗传性血红蛋白疾病。镰状细胞疾病是由于血红蛋白分子结构异常引起的,而地中海贫血综合征是由血红蛋白A或B链合成受损引起的。本章描述其临床特征、表现、并发症、评估、实验室诊断和处理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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