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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.
2
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。
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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。
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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。
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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。
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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。
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引用本文的文献

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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.
2
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.
3
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.
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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.
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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.