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[阿根廷一个家族中由埃文斯血红蛋白引起的溶血性贫血]

[Hemolytic anemia due to hemoglobin Evans in an Argentinean family].

作者信息

Zanotto María I, Calvo Karina, Schvartzman Gabriel, Deana Alejandra, Noguera Nélida, Bragós Irma, Milani Angela

机构信息

Laboratorio de Hematología, Policlínica Bancaria.

出版信息

Arch Argent Pediatr. 2010 Dec;108(6):e130-3. doi: 10.1590/S0325-00752010000600015.

Abstract

Unstable hemoglobins are structural variants of the hemoglobin molecule, mostly originated by single amino-acid replacement in some globin chains. These changes affect molecule stability, leading to loss of solubility, precipitation, and cellular lysis. Patients carrying these unstable hemoglobins may present mild to severe chronic hemolytic anemia. Hemoglobin Evans is an unstable variant originated by replacement of valine with methionine at position 62 of the α-globin chain. We have identified this variant in a girl with an acute hemolytic crisis associated to pharyngitis, as well as in two of her family members. This is the third case of hemolytic anemia due to hemoglobin Evans reported in the literature.

摘要

不稳定血红蛋白是血红蛋白分子的结构变体,大多由某些珠蛋白链中的单个氨基酸替换所致。这些变化影响分子稳定性,导致溶解度丧失、沉淀和细胞裂解。携带这些不稳定血红蛋白的患者可能出现轻度至重度的慢性溶血性贫血。埃文斯血红蛋白是一种不稳定变体,由α珠蛋白链第62位的缬氨酸被甲硫氨酸取代所致。我们在一名与咽炎相关的急性溶血性危机女童及其两名家庭成员中发现了这种变体。这是文献报道的第三例因埃文斯血红蛋白导致的溶血性贫血病例。

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