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血红蛋白A2的变异

Variation in hemoglobin A2.

作者信息

Vella F

出版信息

Hemoglobin. 1977;1(7):619-50. doi: 10.3109/03630267708999171.

DOI:10.3109/03630267708999171
PMID:334707
Abstract

The structure, properties and function of, and some biosynthetic and genetic aspects of, Hb A2 are described. The structural variants of Hb A2 are reviewed and their geographical distribution presented. Hb A2, Hb A2-Flatbush and Hb A2-Babinga are characteristic of negro populations and may have originated in Western or Central Africa. Hb A2-Sphakia is characteristic of Canadian Amerindian and Hb A2-Indonesia of Indonesian/Malay populations. Hb A2-NYU has only been found sporadically and most frequently in persons of Eastern European origin. The other three variants of Hb A2 have only been reported in a single person or in single families. Some conditions which are associated with changes in Hb A2 levels are reviewed.

摘要

本文描述了血红蛋白A2(Hb A2)的结构、特性、功能以及一些生物合成和遗传学方面的内容。对Hb A2的结构变异进行了综述,并介绍了它们的地理分布。Hb A2、Hb A2 - 弗拉特布什型和Hb A2 - 巴宾加型是黑人种群的特征,可能起源于西非或中非。Hb A2 - 斯法基亚型是加拿大美洲印第安人的特征,而Hb A2 - 印度尼西亚型是印度尼西亚/马来人群体的特征。Hb A2 - NYU型仅偶尔被发现,且最常见于东欧血统的人。Hb A2的其他三种变异仅在单一个体或单个家庭中被报道。本文还综述了一些与Hb A2水平变化相关的情况。

相似文献

1
Variation in hemoglobin A2.血红蛋白A2的变异
Hemoglobin. 1977;1(7):619-50. doi: 10.3109/03630267708999171.
2
In vitro synthesis of hemoglobin and hemoglobin chains in the BFUe-derived colonies form person with alpha- or beta-thalassemia.在来自α或β地中海贫血患者的爆式红系集落形成单位衍生的集落中血红蛋白和血红蛋白链的体外合成。
Am J Hematol. 1981;10(3):227-37. doi: 10.1002/ajh.2830100302.
3
Hemoglobin A2 levels in health and various hematologic disorders.
Am J Clin Pathol. 1977 Mar;67(3):219-26. doi: 10.1093/ajcp/67.3.219.
4
Adult and fetal hemoglobin production in erythroid colonies from subjects with beta-thalassemia or with hereditary persistance of fetal hemoglobin (HPFH).β地中海贫血或胎儿血红蛋白遗传性持续存在(HPFH)患者红系集落中成人血红蛋白和胎儿血红蛋白的生成。
Hemoglobin. 1980;4(3-4):449-67. doi: 10.3109/03630268008996226.
5
The development of haemoglobin A2 in normal negro infants and in sickle cell disease.
Br J Haematol. 1978 Jun;39(2):259-65. doi: 10.1111/j.1365-2141.1978.tb01096.x.
6
Interaction of Hb A2 Indonesia trait with beta-thalassaemia trait and with Hb E trait.印度尼西亚血红蛋白A2特性与β地中海贫血特性以及血红蛋白E特性的相互作用。
Acta Haematol. 1978;59(6):341-7. doi: 10.1159/000207785.
7
Globin gene mapping in normal Hb A2 types of beta-thalassaemia.
Br J Haematol. 1982 May;51(1):59-64. doi: 10.1111/j.1365-2141.1982.tb07289.x.
8
Observations on the levels of Hb A2 in patients with different beta-thalassemia mutations and a delta chain variant.
Blood. 1990 Sep 15;76(6):1246-9.
9
Clinical and haematological evaluation of beta thalassaemia intermedia characterised by unusually low Hb F and increased Hb A2: beta thalassaemia intermedia II.以异常低的胎儿血红蛋白(Hb F)和升高的血红蛋白A2(Hb A2)为特征的中间型β地中海贫血的临床和血液学评估:中间型β地中海贫血II型
J Med Genet. 1985 Jun;22(3):213-21. doi: 10.1136/jmg.22.3.213.
10
Clinical, haematological, and genetic studies of type 2 normal Hb A2 beta thalassaemia.2型正常Hb A2β地中海贫血的临床、血液学及遗传学研究
J Med Genet. 1988 Mar;25(3):195-9. doi: 10.1136/jmg.25.3.195.

引用本文的文献

1
Nonrandom patterns of codon usage and of nucleotide substitutions in human alpha- and beta-globin genes: an evolutionary strategy reducing the rate of mutations with drastic effects?人类α-和β-珠蛋白基因中密码子使用和核苷酸替换的非随机模式:一种降低具有严重影响的突变率的进化策略?
Proc Natl Acad Sci U S A. 1981 Feb;78(2):1110-4. doi: 10.1073/pnas.78.2.1110.