{"title":"Haemoglobinopathies","authors":"","doi":"10.1017/9781108684729.112","DOIUrl":null,"url":null,"abstract":"Haemoglobinopathies are inherited disorders, usually autosomal recessive. Carriers (heterozygotes), with just one abnormal gene, are usually asymptomatic, whereas people who inherit an abnormal gene from both parents (homozygotes) express the disease. In most parts of the UK there is a programme of antenatal and neonatal screening for the most serious variants. Haemoglobinopathies fall into two main categories:","PeriodicalId":373558,"journal":{"name":"Analgesia, Anaesthesia and Pregnancy","volume":"44 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2019-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Analgesia, Anaesthesia and Pregnancy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1017/9781108684729.112","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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摘要

血红蛋白病是遗传性疾病,通常是常染色体隐性遗传病。携带者(杂合子)只有一个异常基因,通常是无症状的,而从父母双方遗传异常基因的人(纯合子)则表现出这种疾病。在英国的大部分地区都有一项针对最严重变异的产前和新生儿筛查计划。血红蛋白病主要分为两类:
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Haemoglobinopathies
Haemoglobinopathies are inherited disorders, usually autosomal recessive. Carriers (heterozygotes), with just one abnormal gene, are usually asymptomatic, whereas people who inherit an abnormal gene from both parents (homozygotes) express the disease. In most parts of the UK there is a programme of antenatal and neonatal screening for the most serious variants. Haemoglobinopathies fall into two main categories:
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