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Hb Nottingham or alpha 2 beta 2 98 (FG5) Val-->Gly in a Czech child.

作者信息

Brabec V, Indrák K, Fortová H, Suttnar J, Blazek B, Cermák J, Divoký V, Vepreková L, Zeman J

机构信息

Institute of Hematology and Blood Transfusion, Prague, Czech Republic.

出版信息

Ann Hematol. 1994 Aug;69(2):93-5. doi: 10.1007/BF01698489.

DOI:10.1007/BF01698489
PMID:8080886
Abstract

We report a fourth case of Hb Nottingham [alpha 2 beta 2 98 (FG5) Val-->Gly] observed in an 8-year-old girl in the Czech Republic with clinical and laboratory symptoms of severe hemolytic anemia. The unstable hemoglobin probably represents a de novo mutation, since the parents of the patient and the two siblings do not exhibit any hematological abnormalities. Splenectomy had a beneficial effect on the degree of hemolysis, as well as on the Hb level.

摘要

相似文献

1
Hb Nottingham or alpha 2 beta 2 98 (FG5) Val-->Gly in a Czech child.
Ann Hematol. 1994 Aug;69(2):93-5. doi: 10.1007/BF01698489.
2
Hb Nottingham or alpha 2 beta 2(98)(FG5)Val----Gly observed as a de novo mutation in a Canadian child.血红蛋白诺丁汉型或α2β2(98)(FG5)缬氨酸突变为甘氨酸，在一名加拿大儿童中被观察到为新发突变。
Hemoglobin. 1992;16(1-2):77-9. doi: 10.3109/03630269209005679.
3
Two rare unstable beta chain variants, Hb Mozhaisk or alpha 2 beta 292(F8)His----Arg and Hb Djelfa or alpha 2 beta 298(Fg5)Val----Ala, each being observed for the second time.两种罕见的不稳定β链变体，即Hb莫扎伊斯克（或α2β2 92（F8）组氨酸→精氨酸）和Hb杰勒法（或α2β2 98（F95）缬氨酸→丙氨酸），均为第二次被观察到。
Hemoglobin. 1989;13(2):193-7. doi: 10.3109/03630268908998072.
4
Hb Nottingham (alpha2beta2 (FG5) 98 val leads to gly) in a Caucasian male: clinical and biosynthetic studies.一名高加索男性中的诺丁汉血红蛋白（α2β2 (FG5) 98位缬氨酸突变为甘氨酸）：临床与生物合成研究
Hemoglobin. 1978;2(4):315-32. doi: 10.3109/03630267809005343.
5
[Structural variants in hemoglobin occurring in the Czech Republic].
Vnitr Lek. 1995 Jan;41(1):13-20.
6
Hb Sinai-Baltimore or alpha 2 beta (2)18(A15)Val->Gly, a silent, mildly unstable beta chain variant detected by isoelectrofocusing and high performance liquid chromatography.血红蛋白西奈-巴尔的摩型或α2β(2)18(A15)缬氨酸→甘氨酸，这是一种通过等电聚焦和高效液相色谱法检测到的沉默、轻度不稳定的β链变体。
Hemoglobin. 1993 Dec;17(6):505-12. doi: 10.3109/03630269309043490.
7
Hb Koln [β98(FG5) [GTG → ATG, Val → Met]: the first report from India.血红蛋白科隆[β98（FG5）[GTG → ATG，缬氨酸 → 甲硫氨酸]：来自印度的首例报告。
Hematology. 2014 Jun;19(4):199-201. doi: 10.1179/1607845413Y.0000000116. Epub 2013 Nov 25.
8
Dominantly Inherited beta-Thalassemia.显性遗传性β地中海贫血
Hemoglobin. 2007;31(2):193-207. doi: 10.1080/03630260701290092.
9
A 25-year observation of a Japanese female patient with Hb Nottingham who has two children with the same disorder.对一名患有诺丁汉血红蛋白病的日本女性患者进行的25年观察，该患者育有两名患有相同疾病的子女。
Hemoglobin. 2012;36(5):446-55. doi: 10.3109/03630269.2012.703980.
10
Hemoglobin Windsor or beta 11 (A8)Val----Asp: a new unstable beta-chain hemoglobin variant producing a hemolytic anemia.血红蛋白温莎或β11（A8）缬氨酸→天冬氨酸：一种导致溶血性贫血的新型不稳定β链血红蛋白变体。
Hemoglobin. 1989;13(5):437-53. doi: 10.3109/03630268908998083.

本文引用的文献

1
HEREDITARY HEINZ-BODY ANAEMIA. A REPORT OF STUDIES ON FIVE PATIENTS WITH MILD ANAEMIA.遗传性 Heinz 小体贫血：5 例轻度贫血患者的研究报告
Br J Haematol. 1964 Jul;10:388-402. doi: 10.1111/j.1365-2141.1964.tb00715.x.
2
Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family.
Hemoglobin. 1993 Aug;17(4):319-28. doi: 10.3109/03630269308997485.
3
Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes.从少量外周血构建人类基因文库：β样珠蛋白基因分析
Hemoglobin. 1982;6(1):27-36. doi: 10.3109/03630268208996930.
4
Haemoglobin Nottingham, beta FG 5 (98) valgly: a new unstable haemoglobin producing severe haemolysis.血红蛋白诺丁汉，β链FG段5（98）缬氨酸-甘氨酸：一种导致严重溶血的新型不稳定血红蛋白。
Proc R Soc Med. 1973 Jun;66(6):507-8. doi: 10.1177/003591577306600607.
5
A simple method for the detection of unstable haemoglobins.一种检测不稳定血红蛋白的简单方法。
Br J Haematol. 1972 Nov;23(5):615-9. doi: 10.1111/j.1365-2141.1972.tb07096.x.
6
Separation of hemoglobin variants by ion-exchange chromatography on Monobead resins.通过在单珠树脂上进行离子交换色谱法分离血红蛋白变体。
J Chromatogr. 1985 Jan 18;318(2):325-32. doi: 10.1016/s0021-9673(01)90693-4.
7
Hb Saint Louis or alpha 2 beta 2(28)(B10)Leu----Gln in a Czechoslovakian male.一名捷克斯洛伐克男性患有圣路易斯血红蛋白病或α2β2(28)(B10)亮氨酸突变为谷氨酰胺。
Hemoglobin. 1986;10(6):673-6. doi: 10.3109/03630268609036572.
8
Unstable hemoglobins.
Hemoglobin. 1990;14(4):353-88. doi: 10.3109/03630269009031998.
9
Hb Köln or alpha 2 beta 2(98)(FG5)Val----Met in a Czechoslovakian family.Hb科隆或α2β2(98)(FG5)缬氨酸→甲硫氨酸，见于一个捷克斯洛伐克家庭。
Hemoglobin. 1991;15(1-2):133-5. doi: 10.3109/03630269109072495.
10
Hb E [beta 26(B8)Glu----Lys] in a Czechoslovakian family.捷克斯洛伐克一个家族中的血红蛋白E [β26（B8）谷氨酸→赖氨酸]
Hemoglobin. 1991;15(1-2):129-31. doi: 10.3109/03630269109072494.