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一个古巴家庭中的阿雷格里港血红蛋白。

Haemoglobin Porto Alegre in a Cuban family.

作者信息

Martínez G, Lima F, Wade M, Estrada M, Colombo B, Heredero L, Granda H

出版信息

J Med Genet. 1977 Dec;14(6):422-5. doi: 10.1136/jmg.14.6.422.

Abstract

During a screening programme for abnormal haemoglobins in Habana, one case of Hb Porto Alegre was found in 23 000 cases analysed. The ability of this variant to polymerise in vitro and the absence of clinical features in the carriers have been confirmed. These observations are now explained by the findings of high levels of glutathione in the red cells of subjects heterozygous for Hb Porto Alegre: it is suggested that the increase of glutathione is responsible for the absence of in vivo polymerisation and accounts for the lack of clinical symptoms.

摘要

在哈瓦那开展的一项异常血红蛋白筛查项目中,在分析的23000个病例里发现了1例血红蛋白阿雷格里港变体(Hb Porto Alegre)。现已证实该变体在体外具有聚合能力,且携带者没有临床症状。现在,这些观察结果可通过对血红蛋白阿雷格里港变体杂合子受试者红细胞中高水平谷胱甘肽的研究结果来解释:有人提出,谷胱甘肽的增加是体内未发生聚合的原因,也是没有临床症状的原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46ff/1013638/c8edf9185077/jmedgene00307-0035-a.jpg

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