Diagnosis and prevention of thalassemia

IpH.-W.; SoC.-C.

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Diagnosis and prevention of thalassemia

机译：诊断和预防地中海贫血

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Thalassemia is the most common monogenic inherited disease worldwide and it affects most countries to various extents. This review summarizes the current approaches to phenotypic and genotypic diagnosis of thalassemia in clinical practice. Prevention strategies that encompass carrier screening, genetic counseling and prenatal diagnosis are discussed. The importance of public education and an awareness of a changing perception regarding this group of diseases are emphasized. It also addresses the impact of the rapidly increasing knowledge in disease severity modification by hemoglobin F (Hb F).

机译：地中海贫血是全球最常见的单一的继承疾病，它影响了大多数国家到各种范围。本综述总结了目前在临床实践中血统症的表型和基因型诊断的方法。讨论了预防策略，包括载体筛查，遗传咨询和产前诊断。强调了公共教育的重要性和对关于这组疾病的不断变化的感知。它还解决了血红蛋白F（HB F）迅速增加知识对疾病严重程度修饰的影响。

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来源
《Critical reviews in clinical laboratory sciences》 |2013年第6期|共17页
作者
IpH.-W.; SoC.-C.;
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作者单位

Department of Pathology and Clinical Biochemistry Queen Mary Hospital China;

Department of Pathology Faculty of Medicine University of Hong Kong Hong Kong;

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原文格式 PDF
正文语种 eng
中图分类诊断学;
关键词
Genotype; Globin; Hemoglobin F; Phenotype; Screening;

机译：基因型;球蛋白;血红蛋白F;表型;筛选;

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专利

1. MOLECULAR HETEROGENEITY OF beta-THALASSEMIA ALLELES IN SPAIN AND ITS IMPORTANCE IN THE DIAGNOSIS AND PREVENTION OF beta-THALASSEMIA MAJOR AND SICKLE CELL DISORDERS [J] . Maria del Mar Manu Pereira, Anna Cabot Dalmau, Joan Lluis Vives Corrons Hemoglobin: International Journal for Hemoglobin Research . 2009,第3a4期

机译：β-地中海贫血等位基因在西班牙的分子异质性及其在诊断和预防β-地中海贫血重大和镰状细胞疾病中的重要性
2. From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience [J] . Giovanni Monni, Cristina Peddes, Ambra Iuculano, Journal of Clinical Medicine . 2018,第2期

机译：从产前到植入前β-地中海贫血的遗传诊断。 8748例病例的预防模型：40年的单中心经验
3. Molecular Diagnosis of alpha(0)-Thalassemia Through Urine DNA: A Novel DNA Source to Facilitate Prevention Programs in Remote Geographical Areas [J] . Suwannakhon Narutchala, Seeratanachot Teerapat, Mahingsa Khwanruedee, Hemoglobin: International Journal for Hemoglobin Research . 2015,第1a6期

机译：通过尿液DNA的α（0）-地中海贫血的分子诊断：一种新型的DNA来源，以促进偏远地区的预防计划
4. A development of knowledge representation for thalassemia prevention and control program [C] . Assawamakin Anunchai, Chalortham Nopphadol, Ruangrajitpakorn Taneth, 7th International Conference on Natural Language Processing and Knowledge Engineering . 2011

机译：地中海贫血预防和控制计划的知识表示开发
5. Genetic screening, prenatal diagnosis and treatment for beta thalassemia a cost analysis. [D] . Ostrowsky, Julia T. 1983

机译：遗传筛查，产前诊断和治疗β地中海贫血的费用分析。
6. The First Asian Single-Center Experience of Blastocyst Preimplantation Genetic Diagnosis with HLA Matching in Thailand for the Prevention of Thalassemia and Subsequent Curative Hematopoietic Stem Cell Transplantation of Twelve Affected Siblings [O] . Kasorn Tiewsiri, Somjate Manipalviratn, Warachaya Sutheesophon, 2020

机译：第一个亚洲单调胚泡预溶解遗传诊断的体验与泰国的HLA匹配用于预防其血统和随后的治愈性造血干细胞移植的12个受影响的兄弟姐妹
7. Prevention of β-Thalassemia Major and Eβ-Thalassemia by Prenatal Diagnosis in Eastern India [O] . Bani Gajra 2003

机译：印度东部产前诊断预防β-秋季血症主要和Eβ-ZHALASSEMIA

Diagnosis and prevention of thalassemia

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