Compound heterozygosity for two α-globin gene defects, Hb taybe (α1; 38 or 39 minus thr) and a poly a mutation (α2; AATAAA → AATAAG), results in a severe hemolytic anemia
Author:
Publisher
Wiley
Subject
Hematology
Reference27 articles.
1. HÆMOGLOBIN-H DISEASE DUE TO A UNIQUE HÆMOGLOBIN VARIANT WITH AN ELONGATED α-CHAIN
2. Hb Icaria–Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA
3. α and β thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization
4. Hemoglobin Petah Tikva (alpha 110 ala replaced by asp): a new unstable variant with alpha-thalassemia-like expression
5. Hb adana or α259(E8)Gly→Aspβ2, A severely unstable α1-globin variant, observed in combination with the -(α)20.5 KB α-thal-1 deletion in two Turkish patients
Cited by 22 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Severe Transfusion-Dependent Thalassemia in Compound Heterozygote Palestinian Siblings with Two α-Globin Gene Defects, Hb Taybe D HBA1 : C.119_121delCCA Mutation and HBA2 : C.*94A > G Mutation;Hemoglobin;2024-03-03
2. Molecular diagnosis of α-thalassemia in a multiethnic population;European Journal of Haematology;2017-04-06
3. Hb TAYBE: clinical and morphological findings IN 43 patients;European Journal of Haematology;2015-12-15
4. Diagnostic pitfalls of less well recognized HbH disease;Blood Cells, Molecules, and Diseases;2015-12
5. Hämoglobinvarianten – Pathomechanismus, Symptome und Diagnostik;LaboratoriumsMedizin;2015-01-01
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3