Hereditary Non-Spherocytic Hemolytic Anemia (HNSHA): Four Children with Rare Hereditary Red Cell Enzymopathies.
作者信息
Sivasankaran Meena, Reddy Vamsi Krishna, Kumar Vimal, Munirathnam Deenadayalan
机构信息
Department of Pediatric Haemato-Oncology and Bone Marrow Transplantation, Kanchi Kamakoti CHILD Trust Hopsital, Numgambakkam, Chennai, Tamil Nadu.
Department of Pediatrics, Kanchi Kamakoti CHILD Trust Hopsital, Numgambakkam, Chennai, Tamil Nadu.
出版信息
Indian Pediatr. 2021 Oct 15;58(10):993-994. doi: 10.1007/s13312-021-2339-7.
Abstract
摘要
相似文献
1
Hereditary Non-Spherocytic Hemolytic Anemia (HNSHA): Four Children with Rare Hereditary Red Cell Enzymopathies.遗传性非球形细胞溶血性贫血（HNSHA）：四名患有罕见遗传性红细胞酶病的儿童。
Indian Pediatr. 2021 Oct 15;58(10):993-994. doi: 10.1007/s13312-021-2339-7.
2
[NON-SPHEROCYTIC HEREDITARY HEMOLYTIC ANEMIA. GENERALITIES ON ITS HISTORY AND DIAGNOSTIC CONDITIONS].[非球形红细胞遗传性溶血性贫血。其历史与诊断条件概述]
Bull Mem Soc Med Hop Paris. 1964;115:459-66.
3
HEREDITARY NON-SPHEROCYTIC HAEMOLYTIC ANAEMIA. A STUDY OF RED-CELL CARBOHYDRATE METABOLISM IN TWELVE CASES OF PYRUVATE-KINASE DEFICIENCY.遗传性非球形红细胞溶血性贫血。12例丙酮酸激酶缺乏症患者红细胞碳水化合物代谢的研究。
Br J Haematol. 1964 Jul;10:403-11. doi: 10.1111/j.1365-2141.1964.tb00716.x.
4
[Hereditary non-spherocytic hemolytic anemia].[遗传性非球形细胞溶血性贫血]
Rev Med Chil. 1960 Nov;88:891-6.
5
[ON THE DIFFERENTIAL DIAGNOSIS OF HEREDITARY NON-SPHEROCYTIC HEMOLYTIC ANEMIAS].[论遗传性非球形细胞溶血性贫血的鉴别诊断]
Med Welt. 1963 Nov 16;46:2338-45.
6
[Atypical hereditary corpuscular non-spherocytic hemolytic anemia].[非典型遗传性球形红细胞增多症] （注：原文中“corpuscular non-spherocytic”表述有误，推测应为“spherocytic”，这里按正确的“球形红细胞增多症”翻译，若原文无误请根据实际情况调整）
Folia Haematol Int Mag Klin Morphol Blutforsch. 1959;76:562-76.
7
Hereditary non-spherocytic hemolytic anemia of the pyruvate-kinase deficient type.丙酮酸激酶缺乏型遗传性非球形红细胞溶血性贫血
Ann Intern Med. 1963 Apr;58:567-91. doi: 10.7326/0003-4819-58-4-567.
8
[Hereditary non-spherocytic hemolytic anemia (jaundice)].[遗传性非球形细胞溶血性贫血（黄疸）]
Naika Hokan. 1962;9:83-91.
9
Crises in congenital spherocytic anaemia (acholuric jaundice).先天性球形红细胞贫血（无胆色素尿性黄疸）的危象
Br Med J. 1954 Mar 27;1(4864):737-40. doi: 10.1136/bmj.1.4864.737.
引用本文的文献
1
Severe Hemolytic Anemia due to Erythrocyte Adenylate Kinase Deficiency due to a Novel Missense Mutation (c.518T>G).由一种新型错义突变（c.518T>G）导致红细胞腺苷酸激酶缺乏引起的严重溶血性贫血。
Indian J Pediatr. 2024 Feb;91(2):206. doi: 10.1007/s12098-023-04870-9. Epub 2023 Oct 2.
本文引用的文献
1
Red Blood Cell Enzyme Disorders.红细胞酶紊乱
Pediatr Clin North Am. 2018 Jun;65(3):579-595. doi: 10.1016/j.pcl.2018.02.005.
2
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.丙酮酸激酶缺乏症的临床谱：来自丙酮酸激酶缺乏症自然史研究的数据。
Blood. 2018 May 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16.
3
Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant.下一代测序揭示了葡萄糖-6-磷酸异构酶（GPI）c.1040G>A（p.Arg347His）的纯合突变，该突变导致一名印度婴儿溶血。
Clin Chim Acta. 2017 May;468:81-84. doi: 10.1016/j.cca.2017.02.012. Epub 2017 Feb 20.
4
Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.罕见遗传性红细胞酶病相关溶血性贫血的病理生理学、临床特征和实验室诊断。
Int J Lab Hematol. 2014 Jun;36(3):388-97. doi: 10.1111/ijlh.12223.
5
Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.红细胞腺苷酸激酶缺乏症：重组突变体形式的特征及其与非球形红细胞溶血性贫血的关系。
Exp Hematol. 2007 Aug;35(8):1182-9. doi: 10.1016/j.exphem.2007.05.004.
6
Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency.一名患有红细胞丙酮酸激酶缺乏症的儿童成功进行了骨髓移植。
Bone Marrow Transplant. 2000 Sep;26(6):689-90. doi: 10.1038/sj.bmt.1702576.
Zotero 插件