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由血红蛋白圣地亚哥导致的红细胞增多症。

Erythraemia due to haemoglobin San Diego.

作者信息

Chanarin I, Samson D, Lang A, Casey R, Lorkin P A, Lehmann H

出版信息

Br J Haematol. 1975 Jun;30(2):167-75. doi: 10.1111/j.1365-2141.1975.tb00531.x.

DOI:10.1111/j.1365-2141.1975.tb00531.x
PMID:1201208
Abstract

A 63-year-old man with erythraemia was found to have a high affinity haemoglobin which was subsequently identified as Hb San Diego beta 109 (G11) Val leads to Met, recently described in a Filipino family (Nute et al, 1974). The oxygen affinity of the haemolysates was increased approximately two-fold at pH values between 6.04 and 7.90. The n value was nearly normal (2.5-2.9) in the upper range of saturation (70-95% oxygenation) but was somewhat diminished (1.9-2.1) below this range. In vitro biosynthesis of globin by reticulocytes showed that there was balanced synthesis of alpha and beta chains (alpha:beta ratio = 1).

摘要

一名患有红细胞增多症的63岁男性被发现有一种高亲和力血红蛋白,随后被鉴定为Hb圣地亚哥β109(G11)缬氨酸突变为甲硫氨酸,这是最近在一个菲律宾家庭中描述的(努特等人,1974年)。在pH值6.04至7.90之间,溶血产物的氧亲和力增加了约两倍。在饱和度较高的范围(70%-95%氧合)内,n值接近正常(2.5-2.9),但在该范围以下有所降低(1.9-2.1)。网织红细胞对珠蛋白的体外生物合成表明,α链和β链的合成是平衡的(α:β比率=1)。

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1
Erythraemia due to haemoglobin San Diego.由血红蛋白圣地亚哥导致的红细胞增多症。
Br J Haematol. 1975 Jun;30(2):167-75. doi: 10.1111/j.1365-2141.1975.tb00531.x.
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Identification and quantitation of Hb Olympia [beta 20(B2)Val leads to Met] and Hb San Diego [beta 109(G11)Val leads to Met] by high-performance liquid chromatography.
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Defective synthesis of an unstable haemoglobin: haemoglobin Koln (beta 98 Val-Met).不稳定血红蛋白的合成缺陷:血红蛋白科隆(β98缬氨酸-甲硫氨酸)
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Polycythaemia associated with a new haemoglobin variant: haemoglobin Palmerston North beta 23 (B5) val----phe.与一种新的血红蛋白变异体相关的红细胞增多症:血红蛋白北帕默斯顿β23(B5)缬氨酸----苯丙氨酸。
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[Hemoglobin San Diego [beta 109(G11) Val leads to Met] in association with erythrocytosis in a Japanese family].[血红蛋白圣地亚哥型[β109(G11)缬氨酸突变为甲硫氨酸]与一个日本家庭的红细胞增多症相关]
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Synthesis of haemoglobin Lepore.血红蛋白Lepore的合成。
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Secondary erythrocytosis due to hemoglobin San Diego.由血红蛋白圣地亚哥导致的继发性红细胞增多症。
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