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镰仓血红蛋白[α40(C5)赖氨酸→甲硫氨酸]:一种具有增加氧亲和力的新型α链变体。

Hb Kanagawa [alpha 40(C5)Lys----Met]: a new alpha chain variant with an increased oxygen affinity.

作者信息

Miyashita H, Hashimoto K, Mohri H, Ohokubo T, Harano T, Harano K, Imai K

机构信息

First Department of Internal Medicine, Yokohama City University School of Medicine, Japan.

出版信息

Hemoglobin. 1992;16(1-2):1-10. doi: 10.3109/03630269209005670.

DOI:10.3109/03630269209005670
PMID:1634355
Abstract

An abnormal hemoglobin was suspected in a 70-year-old Japanese male with cerebral infarction and erythremia with high performance liquid chromatography assay of Hb A1c. The hemoglobin variant migrated to the anode more rapidly than Hb A. Structure determination studies, including amino acid analysis of the abnormal peptide and DNA sequencing of a partially cloned alpha-globin gene, demonstrated that it is a new hemoglobin variant which has been named Hb Kanagawa [alpha 40(C5)Lys----Met]. This variant showed an increased oxygen affinity, decreased heme-heme interaction, and a lowered 2,3-diphosphoglycerate effect relative to normal.

摘要

一名70岁的日本男性患有脑梗死和红细胞增多症,通过高效液相色谱法检测糖化血红蛋白时,怀疑存在异常血红蛋白。该血红蛋白变体比血红蛋白A向阳极迁移得更快。结构测定研究,包括对异常肽段的氨基酸分析和部分克隆的α-珠蛋白基因的DNA测序,表明它是一种新的血红蛋白变体,已被命名为血红蛋白镰仓[α40(C5)赖氨酸→甲硫氨酸]。相对于正常情况,该变体显示出氧亲和力增加、血红素-血红素相互作用降低以及2,3-二磷酸甘油酸效应降低。

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Hb Kanagawa [alpha 40(C5)Lys----Met]: a new alpha chain variant with an increased oxygen affinity.镰仓血红蛋白[α40(C5)赖氨酸→甲硫氨酸]:一种具有增加氧亲和力的新型α链变体。
Hemoglobin. 1992;16(1-2):1-10. doi: 10.3109/03630269209005670.
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Hemoglobin Kariya [alpha 40 (C5) Lys leads to Glu]: a new hemoglobin variant with an increased oxygen affinity.卡里亚血红蛋白[α40(C5)赖氨酸突变为谷氨酸]:一种具有增加氧亲和力的新型血红蛋白变体。
FEBS Lett. 1983 Mar 21;153(2):332-4. doi: 10.1016/0014-5793(83)80636-x.
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A new alpha chain variant Hb Tonosho [alpha 110(G17)Ala----Thr]: subunit dissociation during cation exchange chromatography for Hb A1c assay.
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A third instance of the high oxygen affinity variant, Hb Heathrow [beta 103(G5)Phe- greater than Leu]: identification of the mutation by mass spectrometry and by DNA analysis.高氧亲和力变体Hb Heathrow [β103(G5)苯丙氨酸→亮氨酸]的第三个实例:通过质谱法和DNA分析鉴定突变
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A new alpha chain variant, Hb Turriff [alpha 99(G6)Lys----Glu]: the interference of abnormal hemoglobins in Hb A1c determination.一种新的α链变体,Hb 图里夫[α99(G6)赖氨酸→谷氨酸]:异常血红蛋白对糖化血红蛋白(Hb A1c)测定的干扰。
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Hb natal or alpha 2(minus Tyr-Arg) beta 2: a high oxygen affinity alpha chain variant with a deleted carboxy-terminus resulting from a TAC----TAA (Tyr----terminating codon) mutation in codon alpha 140.
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Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: a new high oxygen affinity variant.血红蛋白剑桥-马萨诸塞型[β144(HC1)-β146(HC3)赖氨酸-酪氨酸-组氨酸→0(HBB基因c.433 A>T)]:一种新的高氧亲和力变体。
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A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln].
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Hb San Cataldo [β144(HC1)Lys→Thr; HBB: C.434A > C]: A New Hemoglobin Variant with Increased Affinity for Oxygen.血红蛋白圣卡塔尔多[β144(HC1)赖氨酸→苏氨酸;HBB:C.434A>C]:一种对氧亲和力增加的新型血红蛋白变体。
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A case of hemoglobin Hiroshima (β146 histidine to aspartic acid) with compensatory erythremia and undetectable HbA₁c.一例血红蛋白广岛(β146 组氨酸突变为天冬氨酸)伴代偿性红细胞增多症和 HbA₁c 检测不出。
Int J Hematol. 2012 Jun;95(6):697-701. doi: 10.1007/s12185-012-1066-1. Epub 2012 Apr 8.