患有SEC23B - Y462C突变的印度患者中，II型先天性红细胞生成异常性贫血酷似遗传性球形红细胞增多症。 - Suppr

Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.

作者信息

Kedar Prabhakar, Parmar Vaishali, Devendra Rati, Gupta Vinod, Warang Prashant, Madkaikar Manisha

机构信息

Department of Haematogenetics, National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multistoried Building, K.E.M Hospital Campus, Parel, Mumbai, 400012, India.

出版信息

Ann Hematol. 2017 Dec;96(12):2135-2139. doi: 10.1007/s00277-017-3116-5. Epub 2017 Sep 7.

DOI:10.1007/s00277-017-3116-5

PMID:28879554

Abstract

摘要

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Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.患有SEC23B - Y462C突变的印度患者中，II型先天性红细胞生成异常性贫血酷似遗传性球形红细胞增多症。

Ann Hematol. 2017 Dec;96(12):2135-2139. doi: 10.1007/s00277-017-3116-5. Epub 2017 Sep 7.

Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings.先天性红细胞生成异常性贫血II型，伴有SEC23B外显子12的c.1385 A→G突变，以及两名同胞中的假性戈谢细胞。

Hematology. 2015 Mar;20(2):104-7. doi: 10.1179/1607845414Y.0000000166. Epub 2014 May 6.

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.对 42 例先天性红细胞生成性贫血Ⅱ型患者的分子分析：SEC23B 基因突变及基因型-表型关系的研究。

Haematologica. 2010 May;95(5):708-15. doi: 10.3324/haematol.2009.014985. Epub 2009 Dec 16.

Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.纯合子定位分析揭示了印度II型先天性红细胞生成异常性贫血中的始祖SEC23B-Y462C突变。

Clin Genet. 2015 Aug;88(2):195-7. doi: 10.1111/cge.12527. Epub 2014 Nov 22.

Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population.建立高分辨率熔解曲线分析方法以快速检测印度人群中导致先天性红细胞生成异常性贫血Ⅱ型的 SEC23B 基因突变。

Ital J Pediatr. 2023 Jul 16;49(1):84. doi: 10.1186/s13052-023-01493-w.

[Congenital dyserythropoietic anemia type II: a case report and literature review].[先天性红细胞生成异常性贫血II型：一例报告及文献复习]

Zhonghua Xue Ye Xue Za Zhi. 2012 Apr;33(4):270-3.

Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.先天性红细胞生成异常性贫血Ⅱ型中 SEC23B 基因两个新突变的复合杂合性。

Int J Hematol. 2021 Sep;114(3):390-394. doi: 10.1007/s12185-021-03155-1. Epub 2021 Apr 29.

New Cases and Mutations in Gene Causing Congenital Dyserythropoietic Anemia Type II.导致先天性红细胞生成异常性贫血 II 型的基因中的新病例和突变。

Int J Mol Sci. 2023 Jun 9;24(12):9935. doi: 10.3390/ijms24129935.

[Analysis of genotype and phenotype of SEC23B gene in a family affected with congenital dyserythropoietic anemia type II].[一个II型先天性红细胞生成异常性贫血家系中SEC23B基因的基因型和表型分析]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):874-878. doi: 10.3760/cma.j.issn.1003-9406.2017.06.020.

Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.通过下一代测序panel在一例未确诊的非免疫性遗传性溶血性贫血病例中鉴定与II型先天性红细胞生成异常性贫血相关的SEC23B基因新突变。

J Pediatr Hematol Oncol. 2018 Oct;40(7):e421-e423. doi: 10.1097/MPH.0000000000001207.

引用本文的文献

Hematopoietic Stem Cell Transplant of a Congenital Dyserythropoietic Anemia Type II Patient: A Rare Report from the Indian Population.一名II型先天性红细胞生成异常性贫血患者的造血干细胞移植：来自印度人群的罕见报告。

Indian J Hematol Blood Transfus. 2025 Jan;41(1):194-196. doi: 10.1007/s12288-024-01796-w. Epub 2024 Jul 10.

Congenital Dyserythropoietic Anemia Type II With Myelofibrosis in an Adult Patient: A Report of a Rare Case With a Brief Review.成人患者的II型先天性红细胞生成异常性贫血合并骨髓纤维化：1例罕见病例报告及简要文献复习

Cureus. 2024 Apr 18;16(4):e58515. doi: 10.7759/cureus.58515. eCollection 2024 Apr.

Ital J Pediatr. 2023 Jul 16;49(1):84. doi: 10.1186/s13052-023-01493-w.

Congenital dyserythropoietic anaemia type II in a teenager presenting with severe anaemia.一名青少年患II型先天性红细胞生成异常性贫血并伴有严重贫血。

BMJ Case Rep. 2023 Feb 7;16(2):e251756. doi: 10.1136/bcr-2022-251756.

Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.采用靶向下一代测序方法研究印度先天性贫血的病理生理学和分子特征。

Int J Hematol. 2019 Nov;110(5):618-626. doi: 10.1007/s12185-019-02716-9. Epub 2019 Aug 10.

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Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.

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