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血红蛋白 J--导致先天性溶血性贫血。

Hemoglobin J--as a cause of congenital hemolytic anemia.

机构信息

Department of Pediatrics, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka 580009, India.

出版信息

Indian J Pediatr. 2011 Oct;78(10):1284-6. doi: 10.1007/s12098-011-0393-1. Epub 2011 Mar 9.

DOI:10.1007/s12098-011-0393-1
PMID:21390522
Abstract

Hemoglobin-J is a rare hemoglobin variant known to be clinically silent most of the times, only to be detected accidentally. Herein, the authors report a case of Hemoglobin-J manifesting as unstable hemoglobin detected during evaluation of hemolytic anemia in an 8 month-old-infant. Cation Exchange-High Performance Liquid Chromatography(CE-HPLC) was used to identify this variant after Hb electrophoresis was reported to be normal.

摘要

血红蛋白-J 是一种罕见的血红蛋白变体,大多数情况下临床无症状,仅偶然被发现。本文报道了一例血红蛋白-J 病例,该患者为 8 月龄婴儿,因溶血性贫血评估时发现不稳定血红蛋白。Hb 电泳报告正常后,使用阳离子交换-高效液相色谱(CE-HPLC)来鉴定该变体。

相似文献

1
Hemoglobin J--as a cause of congenital hemolytic anemia.血红蛋白 J--导致先天性溶血性贫血。
Indian J Pediatr. 2011 Oct;78(10):1284-6. doi: 10.1007/s12098-011-0393-1. Epub 2011 Mar 9.
2
A new unstable hemoglobin, Hb Yokohama beta 31 (B13)Leu substituting for Pro, causing hemolytic anemia.
Hemoglobin. 1981;5(7-8):667-78. doi: 10.3109/03630268108991834.
3
Hemoglobin Hammersmith as the cause of severe hemolytic anemia in a Chinese girl.
Am J Pediatr Hematol Oncol. 1986 Spring;8(1):13-7. doi: 10.1097/00043426-198608010-00004.
4
[Discovery of hemoglobin J Baltimore in an episode of methemoglobinemia in an infant].
Nouv Rev Fr Hematol (1978). 1986;28(5):315-20.
5
Congenital hemolytic anemia with Heinz bodies due to unstable hemoglobin. First report in Mexico.因血红蛋白不稳定导致的伴有亨氏小体的先天性溶血性贫血。墨西哥首例报告。
Arch Invest Med (Mex). 1985 Oct-Dec;16(4):367-73.
6
Hemoglobin Shuangfeng (alpha 27 (B8) Glu substituting for Lys): a new unstable hemoglobin variant.
Hemoglobin. 1981;5(7-8):691-700. doi: 10.3109/03630268108991837.
7
[Congenital hemolytic anemia caused by the carriage of hemoglobin Bristol beta 67 Bal-->Asp].
Ter Arkh. 1992;64(7):78-81.
8
Hematological and Molecular Findings in the First Case of Hb J-Norfolk [HBA2: c.173G>A (or HBA1] in an Indian Patient.
Hemoglobin. 2018 Sep-Nov;42(5-6):333-335. doi: 10.1080/03630269.2018.1561462. Epub 2019 Jan 16.
9
[A case of great instability of the hemoglobin: hemoglobin bicêtre (author's transl)].
Nouv Rev Fr Hematol (1978). 1976 Jun;16(1):23-35.
10
The presence of Hb J-Bangkok caused spuriously low glycated hemoglobin value on the Tosoh G7.
Scand J Clin Lab Invest. 2014 Nov;74(8):725-7. doi: 10.3109/00365513.2014.954142. Epub 2014 Sep 9.

引用本文的文献

1
Hemoglobin J in a patient with severe anemia, a case report from Nepal.尼泊尔一名严重贫血患者体内的血红蛋白J:病例报告
Ann Med Surg (Lond). 2022 Sep 15;82:104703. doi: 10.1016/j.amsu.2022.104703. eCollection 2022 Oct.

本文引用的文献

1
Detection of Hb variants and hemoglobinopathies in Indian population using HPLC: report of 2600 cases.使用高效液相色谱法检测印度人群中的血红蛋白变异体和血红蛋白病:2600例报告。
Indian J Pathol Microbiol. 2010 Jan-Mar;53(1):57-62. doi: 10.4103/0377-4929.59185.
2
An "acquired" hemoglobin J variant in a sickle cell disease patient.镰状细胞病患者的“获得性”血红蛋白 J 变体。
Ther Clin Risk Manag. 2008 Jun;4(3):649-52. doi: 10.2147/tcrm.s6866.
3
HPLC studies in hemoglobinopathies.血红蛋白病的高效液相色谱研究。
Indian J Pediatr. 2007 Jul;74(7):657-62. doi: 10.1007/s12098-007-0117-8.
4
Hb J Meerut, a fast-moving hemoglobin: a study of seven cases from India and a review of literature.血红蛋白J密拉特,一种快速移动的血红蛋白:来自印度的7例病例研究及文献综述
Am J Hematol. 2007 Jul;82(7):666-7. doi: 10.1002/ajh.20826.
5
Hb J- Meerut [alpha 120 (H3) Ala ->Glu (alpha1)] in a Turkish male.一名土耳其男性中的血红蛋白J-密拉特[α120(H3)丙氨酸→谷氨酸(α1)]
Int J Med Sci. 2006;3(1):26-7. doi: 10.7150/ijms.3.26. Epub 2006 Feb 2.
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Clin Chem. 2004 Oct;50(10):1736-47. doi: 10.1373/clinchem.2004.034991.
7
A diabetic case with hemoglobin J-Meerut and low HbA1C levels.一例伴有血红蛋白J-密拉特且糖化血红蛋白水平较低的糖尿病病例。
Intern Med. 1997 May;36(5):351-6. doi: 10.2169/internalmedicine.36.351.
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Unstable hemoglobin as a cause of congenital hemolytic anemia.
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A new unstable and low oxygen affinity hemoglobin variant: Hb J-Auckland [beta 25(B7)Gly----Asp].
Hemoglobin. 1987;11(3):221-30. doi: 10.3109/03630268709017888.