β-地中海贫血轻型与遗传性热异形红细胞增多症的共遗传：病例报告 - Suppr

Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report.

作者信息

Naoum Flávio Augusto, Naoum Paulo Cesar

机构信息

Academia de Ciência e Tecnologia (AC&T), São José do Rio Preto, SP, Brazil; Faculdade de Medicina Faceres, São José do Rio Preto, SP, Brazil.

Academia de Ciência e Tecnologia (AC&T), São José do Rio Preto, SP, Brazil.

出版信息

Hematol Transfus Cell Ther. 2020 Jan-Mar;42(1):87-89. doi: 10.1016/j.htct.2019.01.005. Epub 2019 Apr 29.

DOI:10.1016/j.htct.2019.01.005

PMID:31080003

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7031094/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7b0/7031094/b5e12bfaaec5/gr1.jpg

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Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report.

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本文引用的文献

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Blood Cells Mol Dis. 2016 Oct;61:4-9. doi: 10.1016/j.bcmd.2016.07.003. Epub 2016 Jul 17.

ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

Int J Lab Hematol. 2015 Jun;37(3):304-25. doi: 10.1111/ijlh.12335. Epub 2015 Mar 18.

Abnormalities of the erythrocyte membrane.

Pediatr Clin North Am. 2013 Dec;60(6):1349-62. doi: 10.1016/j.pcl.2013.09.001. Epub 2013 Oct 15.

Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex.

Blood. 2010 Jun 10;115(23):4843-52. doi: 10.1182/blood-2010-01-261396. Epub 2010 Mar 2.

Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia.

J Pediatr Hematol Oncol. 2007 Feb;29(2):128-9. doi: 10.1097/MPH.0b013e3180320b6f.

Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis.

Blood. 1993 Sep 1;82(5):1652-60.

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Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report.

作者信息

Naoum Flávio Augusto, Naoum Paulo Cesar

机构信息

Academia de Ciência e Tecnologia (AC&T), São José do Rio Preto, SP, Brazil; Faculdade de Medicina Faceres, São José do Rio Preto, SP, Brazil.

Academia de Ciência e Tecnologia (AC&T), São José do Rio Preto, SP, Brazil.

出版信息

Hematol Transfus Cell Ther. 2020 Jan-Mar;42(1):87-89. doi: 10.1016/j.htct.2019.01.005. Epub 2019 Apr 29.

DOI:10.1016/j.htct.2019.01.005

PMID:31080003

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7031094/

Abstract

摘要

相似文献

Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report.

Hematol Transfus Cell Ther. 2020 Jan-Mar;42(1):87-89. doi: 10.1016/j.htct.2019.01.005. Epub 2019 Apr 29.

A Number of Cases in Iran Presenting with Coinheritance of Hemoglobin-H Disease and Beta-Thalassemia Minor.

Hemoglobin. 2016 Sep;40(5):316-318. doi: 10.1080/03630269.2016.1220953. Epub 2016 Sep 22.

Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach.

Appl Clin Genet. 2017 May 11;10:27-35. doi: 10.2147/TACG.S127531. eCollection 2017.

Coinheritance of hemoglobin D-Punjab and β-thalassemia 3.4 kb deletion in a Thai girl.

Asian J Transfus Sci. 2017 Jul-Dec;11(2):199-202. doi: 10.4103/ajts.AJTS_117_16.

Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India.

Hematology. 2018 Oct;23(9):692-696. doi: 10.1080/10245332.2018.1458934. Epub 2018 Apr 5.

The molecular basis of normal HbA2 (type 2) beta-thalassemia in Greece.

Hematol Pathol. 1994;8(1-2):25-34.

Delta beta thalassemia and hereditary persistence of fetal hemoglobin.

Hematol Oncol Clin North Am. 1991 Jun;5(3):399-422.

Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease.

J Pediatr Hematol Oncol. 2017 Mar;39(2):e69-e70. doi: 10.1097/MPH.0000000000000750.

A rare example that coinheritance of a severe form of beta-thalassemia and alpha-thalassemia interact in a "synergistic" manner to balance the phenotype of classic thalassemic syndromes.

Blood Cells Mol Dis. 2004 Mar-Apr;32(2):319-24. doi: 10.1016/j.bcmd.2003.12.005.

Coinheritance of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in patient with Gilbert's syndrome.

Ter Arkh. 2018 Aug 17;90(7):105-109. doi: 10.26442/terarkh2018907105-109.

本文引用的文献

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Blood Cells Mol Dis. 2016 Oct;61:4-9. doi: 10.1016/j.bcmd.2016.07.003. Epub 2016 Jul 17.

ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

Int J Lab Hematol. 2015 Jun;37(3):304-25. doi: 10.1111/ijlh.12335. Epub 2015 Mar 18.

Abnormalities of the erythrocyte membrane.

Pediatr Clin North Am. 2013 Dec;60(6):1349-62. doi: 10.1016/j.pcl.2013.09.001. Epub 2013 Oct 15.

Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex.

Blood. 2010 Jun 10;115(23):4843-52. doi: 10.1182/blood-2010-01-261396. Epub 2010 Mar 2.

Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia.

J Pediatr Hematol Oncol. 2007 Feb;29(2):128-9. doi: 10.1097/MPH.0b013e3180320b6f.

Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis.

Blood. 1993 Sep 1;82(5):1652-60.

Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report.

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Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report.

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