通过家族基因检测确诊的新生儿遗传性椭圆形红细胞增多症 - Suppr

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超能文献

Newborn hereditary elliptocytosis confirmed by familial genetic testing.

作者信息

Liu Changseung, Eun Ho Sun, Nah Hyunjin, Lee Seung-Tae, Choi Jong Rak, Kim Hyun Ok

机构信息

Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

出版信息

Int J Lab Hematol. 2020 Feb;42(1):e20-e22. doi: 10.1111/ijlh.13079. Epub 2019 Jul 9.

DOI:10.1111/ijlh.13079

PMID:31286676

Abstract

摘要

相似文献

Newborn hereditary elliptocytosis confirmed by familial genetic testing.

Int J Lab Hematol. 2020 Feb;42(1):e20-e22. doi: 10.1111/ijlh.13079. Epub 2019 Jul 9.

Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis.

Ann Lab Med. 2013 Sep;33(5):386-9. doi: 10.3343/alm.2013.33.5.386. Epub 2013 Aug 8.

Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis.

Am J Hum Genet. 1992 Aug;51(2):440-2.

[Disorders of the membrane skeleton of erythrocytes in hereditary spherocytosis and elliptocytosis: significance of the molecular defect for pathogenesis and clinical severity].

Klin Padiatr. 1991 Jul-Aug;203(4):284-95. doi: 10.1055/s-2007-1025443.

[Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant].

C R Acad Sci III. 1989;308(2):43-8.

Alpha128 Arg-->Ser (CGT-->AGT) spectrin mutation associated with severe neonatal elliptopoikilocytosis in Spain.

Haematologica. 2001 May;86(5):537-8.

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

Mol Med Rep. 2018 Apr;17(4):5903-5911. doi: 10.3892/mmr.2018.8632. Epub 2018 Feb 26.

Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin.

Br J Haematol. 1996 Oct;95(1):57-66. doi: 10.1046/j.1365-2141.1996.d01-1869.x.

Defective spectrin dimer-dimer association in a family with transfusion dependent homozygous hereditary elliptocytosis.

Br J Haematol. 1983 Jun;54(2):163-72. doi: 10.1111/j.1365-2141.1983.tb02085.x.

An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.

Hum Genet. 1993 Feb;90(6):641-4. doi: 10.1007/BF00202482.

引用本文的文献

A rare case report of hemolysis in a newborn: hereditary elliptocytosis.

Front Pediatr. 2024 Oct 22;12:1485318. doi: 10.3389/fped.2024.1485318. eCollection 2024.

[Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review].

Zhonghua Xue Ye Xue Za Zhi. 2023 Apr 14;44(4):316-320. doi: 10.3760/cma.j.issn.0253-2727.2023.04.009.

Clinical features and genetic variations of severe neonatal hyperbilirubinemia: Five case reports.

World J Clin Cases. 2022 Jul 16;10(20):6999-7005. doi: 10.12998/wjcc.v10.i20.6999.

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Newborn hereditary elliptocytosis confirmed by familial genetic testing.

作者信息

Liu Changseung, Eun Ho Sun, Nah Hyunjin, Lee Seung-Tae, Choi Jong Rak, Kim Hyun Ok

机构信息

Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

出版信息

Int J Lab Hematol. 2020 Feb;42(1):e20-e22. doi: 10.1111/ijlh.13079. Epub 2019 Jul 9.

DOI:10.1111/ijlh.13079

PMID:31286676

Abstract

摘要

相似文献

Newborn hereditary elliptocytosis confirmed by familial genetic testing.

Int J Lab Hematol. 2020 Feb;42(1):e20-e22. doi: 10.1111/ijlh.13079. Epub 2019 Jul 9.

Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis.

Ann Lab Med. 2013 Sep;33(5):386-9. doi: 10.3343/alm.2013.33.5.386. Epub 2013 Aug 8.

Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis.

Am J Hum Genet. 1992 Aug;51(2):440-2.

[Disorders of the membrane skeleton of erythrocytes in hereditary spherocytosis and elliptocytosis: significance of the molecular defect for pathogenesis and clinical severity].

Klin Padiatr. 1991 Jul-Aug;203(4):284-95. doi: 10.1055/s-2007-1025443.

[Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant].

C R Acad Sci III. 1989;308(2):43-8.

Alpha128 Arg-->Ser (CGT-->AGT) spectrin mutation associated with severe neonatal elliptopoikilocytosis in Spain.

Haematologica. 2001 May;86(5):537-8.

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

Mol Med Rep. 2018 Apr;17(4):5903-5911. doi: 10.3892/mmr.2018.8632. Epub 2018 Feb 26.

Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin.

Br J Haematol. 1996 Oct;95(1):57-66. doi: 10.1046/j.1365-2141.1996.d01-1869.x.

Defective spectrin dimer-dimer association in a family with transfusion dependent homozygous hereditary elliptocytosis.

Br J Haematol. 1983 Jun;54(2):163-72. doi: 10.1111/j.1365-2141.1983.tb02085.x.

An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.

Hum Genet. 1993 Feb;90(6):641-4. doi: 10.1007/BF00202482.

引用本文的文献

A rare case report of hemolysis in a newborn: hereditary elliptocytosis.

Front Pediatr. 2024 Oct 22;12:1485318. doi: 10.3389/fped.2024.1485318. eCollection 2024.

[Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review].

Zhonghua Xue Ye Xue Za Zhi. 2023 Apr 14;44(4):316-320. doi: 10.3760/cma.j.issn.0253-2727.2023.04.009.

Clinical features and genetic variations of severe neonatal hyperbilirubinemia: Five case reports.

World J Clin Cases. 2022 Jul 16;10(20):6999-7005. doi: 10.12998/wjcc.v10.i20.6999.