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由“沉默型”β链突变导致的“沉默型”β地中海贫血:中间型地中海贫血综合征的发病机制

'Silent' beta-thalassaemia caused by a 'silent' beta-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia.

作者信息

Fessas P, Loukopoulos D, Loutradi-Anagnostou A, Komis G

出版信息

Br J Haematol. 1982 Aug;51(4):577-83. doi: 10.1111/j.1365-2141.1982.tb02821.x.

DOI:10.1111/j.1365-2141.1982.tb02821.x
PMID:7104238
Abstract

In a Greek family three cases of beta-thalassaemia intermedia were diagnosed as resulting from the interaction of a typical high HbA2-beta-thalassaemia with an atypical (silent) beta-thalassaemia gene. Following electrophoresis of globins on an acid-urea-Triton-acrylamide system, an otherwise silent beta-like variant was revealed in the carriers of the atypical thalassaemia gene and in the intermediates; it amounted to 33% of the non-alpha chains in the former and to c. 75% in the latter. The provisional name Hb Knossos is suggested for this abnormality.

摘要

在一个希腊家庭中,3例中间型β地中海贫血被诊断为由典型的高HbA2-β地中海贫血与非典型(沉默型)β地中海贫血基因相互作用所致。在酸性尿素- Triton -丙烯酰胺系统上对珠蛋白进行电泳后,在非典型地中海贫血基因携带者和中间型患者中发现了一种原本沉默的β样变体;在前者中,它占非α链的33%,在后者中约占75%。建议将这种异常命名为Hb Knossos。

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1
'Silent' beta-thalassaemia caused by a 'silent' beta-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia.由“沉默型”β链突变导致的“沉默型”β地中海贫血:中间型地中海贫血综合征的发病机制
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引用本文的文献

1
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia.一位叙利亚中间型β-地中海贫血患者存在 Hb Knossos(HBB:c.82G>T)、β-珠蛋白基因 CD5-CT(HBB:c.17_18delCT)和 δ-珠蛋白基因 CD59-a(HBD:c.179delA)突变。
BMC Pediatr. 2019 Feb 18;19(1):61. doi: 10.1186/s12887-019-1435-5.
2
Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia.血红蛋白克诺索斯:HBB基因c.82G>T突变与HBB基因c.315+1G>Aβ0突变相关,导致中间型地中海贫血。
Indian J Hematol Blood Transfus. 2014 Sep;30(Suppl 1):243-5. doi: 10.1007/s12288-014-0343-y. Epub 2014 Jan 31.
3
A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia.
沉默型β地中海贫血、高Hb A2β地中海贫血和单个α珠蛋白基因缺失的基因组合导致轻度中间型地中海贫血。
J Med Genet. 1984 Apr;21(2):153-6. doi: 10.1136/jmg.21.2.153.
4
Thalassemic hemoglobinopathies.地中海贫血血红蛋白病
Am J Pathol. 1983 Dec;113(3):396-409.
5
Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia.血红蛋白密西西比型(β44丝氨酸→半胱氨酸)。β+-地中海贫血复合杂合子的地中海贫血表型研究。
J Clin Invest. 1987 Mar;79(3):826-32. doi: 10.1172/JCI112890.
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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.
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Clinical and haematological evaluation of beta thalassaemia intermedia with increased Hb F and Hb A2 in heterozygotes: beta thalassaemia intermedia I.杂合子中血红蛋白F和血红蛋白A2升高的中间型β地中海贫血的临床和血液学评估:中间型β地中海贫血I
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