Hb SC-芝加哥病合并α-珠蛋白生成障碍性贫血2（-α3.7缺失）的诊断并发症及分子特征：多种变异对患者表型的影响 - Suppr

Diagnostic complication and molecular characteristics of Hb SC-Chicago disease with alpha-thal-2 (-alpha3.7 deletion): effects of multiple variant on patient's phenotype.

作者信息

Hughes Heather Yaun, McKie Kathleen, Carmichael Harris, Bora Komal, Kutlar Abdullah, Kutlar Ferdane

出版信息

Ann Hematol. 2009 Nov;88(11):1151-3. doi: 10.1007/s00277-009-0740-8. Epub 2009 Apr 17.

DOI:10.1007/s00277-009-0740-8

PMID:19373463

Abstract

摘要

相似文献

Diagnostic complication and molecular characteristics of Hb SC-Chicago disease with alpha-thal-2 (-alpha3.7 deletion): effects of multiple variant on patient's phenotype.

Ann Hematol. 2009 Nov;88(11):1151-3. doi: 10.1007/s00277-009-0740-8. Epub 2009 Apr 17.

Diversity in clinical presentation of hemoglobin H disease induced by the SEA deletion and the hemoglobin Quong Sze.

Ann Hematol. 2009 Nov;88(11):1145-7. doi: 10.1007/s00277-009-0716-8. Epub 2009 Mar 4.

Five hemoglobin variants in a double heterozygote for α- and β-globin chain defects.

Acta Haematol. 2014;131(2):71-5. doi: 10.1159/000353123. Epub 2013 Sep 24.

Complex interaction of Hb E [beta26(B8)Glu-->Lys], Hb Korle-Bu [beta73(E17)Asp-->Asn] and a deletional alpha-thalassemia-1 in pregnancy.

Hemoglobin. 2009;33(6):507-14. doi: 10.3109/03630260903343780.

Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotype.

Hemoglobin. 2010;34(4):366-73. doi: 10.3109/03630269.2010.486350.

alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene.

Eur J Haematol. 2010 Apr;84(4):354-8. doi: 10.1111/j.1600-0609.2009.01380.x. Epub 2009 Nov 12.

Hb Bleuland [alpha108(G15)Thr-->Asn, ACC-->AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype.

Hemoglobin. 2006;30(3):349-54. doi: 10.1080/03630260600755351.

Hb Plasencia [α125(H8)Leu→Arg (α2)] is a frequent cause of α+-thalassemia in the Portuguese population.

Hemoglobin. 2013;37(2):183-7. doi: 10.3109/03630269.2013.763822. Epub 2013 Jan 31.

Association of Hb Thailand [α56(E5)Lys→Thr] and Hb Phnom Penh [α117(GH5)-Ile-α118(H1)] with α(0)-thalassemia: molecular and hematological features and differential diagnosis.

Hemoglobin. 2013;37(1):37-47. doi: 10.3109/03630269.2012.747964. Epub 2012 Dec 7.

A Novel Mutation of the α2-Globin Gene Causing α-Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA).

Hemoglobin. 2017 Jan;41(1):56-58. doi: 10.1080/03630269.2017.1302950. Epub 2017 Apr 11.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Diagnostic complication and molecular characteristics of Hb SC-Chicago disease with alpha-thal-2 (-alpha3.7 deletion): effects of multiple variant on patient's phenotype.

作者信息

出版信息

相似文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

Diagnostic complication and molecular characteristics of Hb SC-Chicago disease with alpha-thal-2 (-alpha3.7 deletion): effects of multiple variant on patient's phenotype.

作者信息

出版信息

相似文献