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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

Hb Nottingham (alpha2beta2 (FG5) 98 val leads to gly) in a Caucasian male: clinical and biosynthetic studies.

作者信息

Orringer E P, Felice A, Reese A, Wilson J B, Lam H, Gravely M E, Huisman T H

出版信息

Hemoglobin. 1978;2(4):315-32. doi: 10.3109/03630267809005343.

DOI:10.3109/03630267809005343
PMID:701088
Abstract

A second instance of the unstable mutant Hb Nottingham (alpha2beta2 (FG5) 98 Val leads to Gly) is reported in a 7-year-old boy. Because of splenomegaly, cholelithiasis, and frequent episodes of abdominal pain, he underwent a splenectomy and cholecystectomy at age 6. The surgery resulted in both an amelioration of his RBC destruction and an acceleration of his rate of growth.

摘要

一名7岁男孩被报道出现了不稳定突变型血红蛋白诺丁汉的第二种情况(α2β2 (FG5) 98缬氨酸突变为甘氨酸)。由于脾肿大、胆结石以及频繁的腹痛发作,他在6岁时接受了脾切除术和胆囊切除术。手术既改善了他红细胞的破坏情况,又加快了他的生长速度。

相似文献

1
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.
2
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.
3
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.
4
Observations on the rate and mechanism of hemolysis in individuals with Hb Zürich [His E7(63)beta leads to Arg]: II. Thermal denaturation of hemoglobin as a cause of anemia during fever.对携带苏黎世血红蛋白[组氨酸E7(63)β突变为精氨酸]个体的溶血速率及机制的观察:II. 发热期间血红蛋白热变性作为贫血的一个原因
Johns Hopkins Med J. 1979 Apr;144(4):109-16.
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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。
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Unique sensitivity of Hb Zürich to oxidative injury by phenazopyridine: reversal of the effects by elevating carboxyhemoglobin levels in vivo and in vitro.血红蛋白苏黎世对非那吡啶氧化损伤的独特敏感性:体内和体外通过提高碳氧血红蛋白水平逆转其作用。
Am J Hematol. 1983 Jun;14(4):315-24. doi: 10.1002/ajh.2830140402.
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[Clinicohematologic effects of hemoglobin Altdorf (alpha 2 beta 2 135 Ala replaced by Pro)].
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Unstable hemoglobins and thalassemia: some properties of Hb Köln.
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Hemoglobin Bougardirey-Mali beta 119 (GH2) Gly replaced by Val. An electrophoretically silent variant migrating in isoelectrofocusing as Hb F.
Hemoglobin. 1979;3(4):253-62. doi: 10.3109/03630267908996901.

引用本文的文献

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.