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利雅得血红蛋白——α2β2(120(GH3)位赖氨酸被天冬酰胺取代)。一种与α地中海贫血和缺铁相关的新变异体。

Hemoglobin Riyadh--alpha2beta2 (120(GH3)Lys replaced by Asn). A new variant found in association with alpha-thalassemia and iron deficiency.

作者信息

El-Hazmi M A, Lehmann H

出版信息

Hemoglobin. 1976;1(1):59-74. doi: 10.3109/03630267609031022.

DOI:10.3109/03630267609031022
PMID:1052171
Abstract

On a field trip toSaudi Arabia (M.A.F.E.H.) in which the relationship between alpha-thalassemia and iron deficiency was studied, a fast moving hemoglobin variant was noted in a 30 year old Saudi Arabian woman. Analysis of the hemoglobin variant showed that the amino acid substitution was beta120 Lys replaced by Asn. This variant had not been described previously and has been named Hb Riyadh. There was also present an alpha-thalassemia and details are given of the imbalance of globin chain synthesis. It was possible to improve considerably the balance in vitro by the addition of hemin.

摘要

在一次前往沙特阿拉伯(M.A.F.E.H.)的实地考察中,研究了α地中海贫血与缺铁之间的关系,在此过程中,一名30岁的沙特阿拉伯女性被发现有一种快速移动的血红蛋白变异体。对该血红蛋白变异体的分析表明,氨基酸替代为β120位的赖氨酸被天冬酰胺取代。这种变异体此前未被描述过,已被命名为Hb利雅得。同时还存在α地中海贫血,并给出了珠蛋白链合成失衡的详细情况。通过添加血红素,有可能在体外显著改善这种平衡。

相似文献

1
Hemoglobin Riyadh--alpha2beta2 (120(GH3)Lys replaced by Asn). A new variant found in association with alpha-thalassemia and iron deficiency.利雅得血红蛋白——α2β2(120(GH3)位赖氨酸被天冬酰胺取代)。一种与α地中海贫血和缺铁相关的新变异体。
Hemoglobin. 1976;1(1):59-74. doi: 10.3109/03630267609031022.
2
Identification of hemoglobin G-Philadelphia (alpha 68 Asn replaced by Lys) and hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black infant.在一名黑人婴儿中鉴定出血红蛋白G-费城(α68位天冬酰胺被赖氨酸取代)和血红蛋白松江-冲木(α75位天冬氨酸被天冬酰胺取代)。
Biochim Biophys Acta. 1982 Oct 5;707(2):206-12. doi: 10.1016/0167-4838(82)90352-1.
3
Hemoglobin Karatsu: beta 120 (GH 3) lysine leads to asparagine, an example of HB Riyadh in Japan.唐津血红蛋白:β120(GH 3)赖氨酸突变为天冬酰胺,这是日本利雅得血红蛋白的一个例子。
Hemoglobin. 1977;1(5):461-6. doi: 10.3109/03630267709027863.
4
Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2.埃文斯顿血红蛋白:α14(A12)位色氨酸突变为精氨酸。一种与α地中海贫血-2相关的变异血红蛋白。
Biochim Biophys Acta. 1983 Sep 14;747(1-2):65-70. doi: 10.1016/0167-4838(83)90122-x.
5
Globin chain synthesis in Hb J Baltimore-beta (+)-thalassemia.血红蛋白J巴尔的摩-β(+)-地中海贫血中的珠蛋白链合成
Am J Clin Pathol. 1981 Jun;75(6):843-6. doi: 10.1093/ajcp/75.6.843.
6
Relationship between Hb and HbA2 concentrations in beta-thalassemia trait and effect of iron deficiency anaemia.β-地中海贫血特征中血红蛋白(Hb)与血红蛋白A2(HbA2)浓度的关系及缺铁性贫血的影响
Biomedicine. 1976 Sep 30;25(8):282-4.
7
Hemoglobin E diseases: hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for alpha-thalassemia.血红蛋白E疾病:α地中海贫血纯合子和双重杂合子的血液学、分析及生物合成研究
Am J Hematol. 1982 Aug;13(1):15-21. doi: 10.1002/ajh.2830130104.
8
Hb Shaare Zedek (alpha 56 E5 Lys leads to Glu).沙雷泽德克血红蛋白(α56 E5 赖氨酸突变为谷氨酸)
FEBS Lett. 1980 May 5;113(2):235-7. doi: 10.1016/0014-5793(80)80599-0.
9
Hemoglobin British Columbia (alpha2beta2 101(G3)Glu replaced by Lys). A new variant with high oxygen affinity.
Hemoglobin. 1976;1(2):171-82. doi: 10.3109/03630267608991678.
10
Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family.血红蛋白A2-曼萨纳雷斯或α2δ2 121(GH4)谷氨酸被缬氨酸取代,这是在一个西班牙家族中观察到的一种不稳定的δ链变体。
Hemoglobin. 1983;7(5):435-42. doi: 10.3109/03630268309038412.

引用本文的文献

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2
Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry.早期人类迁徙交汇点的基因组:对来自推断为沙特阿拉伯部落血统的科威特人群亚组的两个全基因组和十三个外显子组的系统分析。
PLoS One. 2014 Jun 4;9(6):e99069. doi: 10.1371/journal.pone.0099069. eCollection 2014.
3
Fetal haemoglobin level--effect of gender, age and haemoglobin disorders.
Mol Cell Biochem. 1994 Jun 29;135(2):181-6. doi: 10.1007/BF00926521.
4
On the nature of sickle-cell disease in the Arabian Peninsula.论阿拉伯半岛镰状细胞病的本质。
Hum Genet. 1979;52(3):323-35. doi: 10.1007/BF00278681.