{"title":"由罕见的α地中海贫血基因相互作用引起的血红蛋白巴氏胎儿水肿的产前诊断错误。","authors":"Kritsada Singha, Supawadee Yamsri, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen","doi":"10.1515/dx-2024-0114","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>To describe rare genetic interactions of α-thalassemia alleles causing Hb H disease and Hb Bart's hydrops fetalis which could lead to diagnostic errors in a routine practice.</p><p><strong>Methods: </strong>Hematological and molecular characterization were carried out in a Thai family with a risk of having fetus with Hb Bart's hydrops fetalis.</p><p><strong>Results: </strong>Both parents were found to be the thalassemia intermedia patients associated with unusual forms of Hb H disease. DNA analysis of common α-thalassemia mutations in Thailand identified α<sup>+</sup>-thalassemia (-α<sup>3.7 kb del</sup>) and unknown α<sup>0</sup>-thalassemia in the father and α<sup>0</sup>-thalassemia (--<sup>SEA</sup>) with unknown α<sup>+</sup>-thalassemia in the mother. Fetal DNA analysis unlikely identified a homozygosity for α<sup>0</sup>-thalassemia (--<sup>SEA</sup>/--<sup>SEA</sup>). Further analysis identified that the father carried a rare South African α<sup>0</sup>-thalassemia in combination with α<sup>+</sup>-thalassemia (--<sup>SA</sup>/-α), whereas the mother was a patient with Hb H-Queens Park disease (--<sup>SEA</sup>/αα<sup>QP</sup>). The fetus was, in fact, a compound heterozygote for (--<sup>SA</sup>/--<sup>SEA</sup>).</p><p><strong>Conclusions: </strong>As shown in this study, routine screening for α-thalassemia at prenatal diagnosis in the region should include both common and rare α<sup>0</sup>-thalassemia alleles found in the population to effectively prevent a fatal condition of Hb Bart's hydrops fetalis syndrome.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.2000,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Prenatal diagnostic errors in hemoglobin Bart's hydrops fetalis caused by rare genetic interactions of α-thalassemia.\",\"authors\":\"Kritsada Singha, Supawadee Yamsri, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen\",\"doi\":\"10.1515/dx-2024-0114\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>To describe rare genetic interactions of α-thalassemia alleles causing Hb H disease and Hb Bart's hydrops fetalis which could lead to diagnostic errors in a routine practice.</p><p><strong>Methods: </strong>Hematological and molecular characterization were carried out in a Thai family with a risk of having fetus with Hb Bart's hydrops fetalis.</p><p><strong>Results: </strong>Both parents were found to be the thalassemia intermedia patients associated with unusual forms of Hb H disease. DNA analysis of common α-thalassemia mutations in Thailand identified α<sup>+</sup>-thalassemia (-α<sup>3.7 kb del</sup>) and unknown α<sup>0</sup>-thalassemia in the father and α<sup>0</sup>-thalassemia (--<sup>SEA</sup>) with unknown α<sup>+</sup>-thalassemia in the mother. Fetal DNA analysis unlikely identified a homozygosity for α<sup>0</sup>-thalassemia (--<sup>SEA</sup>/--<sup>SEA</sup>). Further analysis identified that the father carried a rare South African α<sup>0</sup>-thalassemia in combination with α<sup>+</sup>-thalassemia (--<sup>SA</sup>/-α), whereas the mother was a patient with Hb H-Queens Park disease (--<sup>SEA</sup>/αα<sup>QP</sup>). The fetus was, in fact, a compound heterozygote for (--<sup>SA</sup>/--<sup>SEA</sup>).</p><p><strong>Conclusions: </strong>As shown in this study, routine screening for α-thalassemia at prenatal diagnosis in the region should include both common and rare α<sup>0</sup>-thalassemia alleles found in the population to effectively prevent a fatal condition of Hb Bart's hydrops fetalis syndrome.</p>\",\"PeriodicalId\":11273,\"journal\":{\"name\":\"Diagnosis\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.2000,\"publicationDate\":\"2024-09-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diagnosis\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1515/dx-2024-0114\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diagnosis","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1515/dx-2024-0114","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
摘要
摘要描述导致 Hb H 病和 Hb Bart 胎儿水肿的 α-地中海贫血等位基因的罕见遗传相互作用,这种相互作用可能导致常规诊断错误:结果:发现父母双方都是与不寻常的 Hb H 型疾病相关的中型地中海贫血患者。对泰国常见的α-地中海贫血突变进行的DNA分析发现,父亲患有α+地中海贫血(-α3.7 kb del)和未知的α0地中海贫血,母亲患有α0地中海贫血(--SEA)和未知的α+地中海贫血。胎儿 DNA 分析未发现同型 α0 地中海贫血症(--SEA/--SEA)。进一步分析发现,父亲患有罕见的南非α0地中海贫血合并α+地中海贫血(--SA/-α),而母亲则是一名 Hb H-Queens Park 病(--SEA/ααQP)患者。胎儿实际上是(--SA/--SEA)的复合杂合子:如本研究所示,该地区产前诊断中的α-地中海贫血常规筛查应包括人群中常见和罕见的α0-地中海贫血等位基因,以有效预防致命的Hb Bart胎儿水肿综合征。
Prenatal diagnostic errors in hemoglobin Bart's hydrops fetalis caused by rare genetic interactions of α-thalassemia.
Objectives: To describe rare genetic interactions of α-thalassemia alleles causing Hb H disease and Hb Bart's hydrops fetalis which could lead to diagnostic errors in a routine practice.
Methods: Hematological and molecular characterization were carried out in a Thai family with a risk of having fetus with Hb Bart's hydrops fetalis.
Results: Both parents were found to be the thalassemia intermedia patients associated with unusual forms of Hb H disease. DNA analysis of common α-thalassemia mutations in Thailand identified α+-thalassemia (-α3.7 kb del) and unknown α0-thalassemia in the father and α0-thalassemia (--SEA) with unknown α+-thalassemia in the mother. Fetal DNA analysis unlikely identified a homozygosity for α0-thalassemia (--SEA/--SEA). Further analysis identified that the father carried a rare South African α0-thalassemia in combination with α+-thalassemia (--SA/-α), whereas the mother was a patient with Hb H-Queens Park disease (--SEA/ααQP). The fetus was, in fact, a compound heterozygote for (--SA/--SEA).
Conclusions: As shown in this study, routine screening for α-thalassemia at prenatal diagnosis in the region should include both common and rare α0-thalassemia alleles found in the population to effectively prevent a fatal condition of Hb Bart's hydrops fetalis syndrome.
期刊介绍:
Diagnosis focuses on how diagnosis can be advanced, how it is taught, and how and why it can fail, leading to diagnostic errors. The journal welcomes both fundamental and applied works, improvement initiatives, opinions, and debates to encourage new thinking on improving this critical aspect of healthcare quality. Topics: -Factors that promote diagnostic quality and safety -Clinical reasoning -Diagnostic errors in medicine -The factors that contribute to diagnostic error: human factors, cognitive issues, and system-related breakdowns -Improving the value of diagnosis – eliminating waste and unnecessary testing -How culture and removing blame promote awareness of diagnostic errors -Training and education related to clinical reasoning and diagnostic skills -Advances in laboratory testing and imaging that improve diagnostic capability -Local, national and international initiatives to reduce diagnostic error