{"title":"遗传性贫血：镰状细胞和地中海贫血","authors":"Dale Seviar, Rachel Kesse-Adu","doi":"10.1016/j.mpmed.2025.01.013","DOIUrl":null,"url":null,"abstract":"<div><div>Inherited haemolytic anaemias are caused by genetic mutations that result in an abnormality within the red cell, leading to its early destruction. This abnormality can affect the cell membrane (e.g. hereditary spherocytosis), result from an absence or abnormality of a red cell enzyme (e.g. glucose-6-phosphate dehydrogenase deficiency) or affect haemoglobin, leading to a haemoglobinopathy such as sickle cell disease or thalassaemia.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 4","pages":"Pages 204-213"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Inherited anaemias: sickle cell and thalassaemia\",\"authors\":\"Dale Seviar, Rachel Kesse-Adu\",\"doi\":\"10.1016/j.mpmed.2025.01.013\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Inherited haemolytic anaemias are caused by genetic mutations that result in an abnormality within the red cell, leading to its early destruction. This abnormality can affect the cell membrane (e.g. hereditary spherocytosis), result from an absence or abnormality of a red cell enzyme (e.g. glucose-6-phosphate dehydrogenase deficiency) or affect haemoglobin, leading to a haemoglobinopathy such as sickle cell disease or thalassaemia.</div></div>\",\"PeriodicalId\":74157,\"journal\":{\"name\":\"Medicine (Abingdon, England : UK ed.)\",\"volume\":\"53 4\",\"pages\":\"Pages 204-213\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicine (Abingdon, England : UK ed.)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1357303925000222\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine (Abingdon, England : UK ed.)","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1357303925000222","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Inherited haemolytic anaemias are caused by genetic mutations that result in an abnormality within the red cell, leading to its early destruction. This abnormality can affect the cell membrane (e.g. hereditary spherocytosis), result from an absence or abnormality of a red cell enzyme (e.g. glucose-6-phosphate dehydrogenase deficiency) or affect haemoglobin, leading to a haemoglobinopathy such as sickle cell disease or thalassaemia.
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