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与血红蛋白C相关的胎儿血红蛋白遗传性持续存在的Gγβ+型

G gamma beta + type of hereditary persistence of fetal haemoglobin in association with Hb C.

作者信息

Higgs D R, Clegg J B, Wood W G, Weatherall D J

出版信息

J Med Genet. 1979 Aug;16(4):288-95. doi: 10.1136/jmg.16.4.288.

DOI:10.1136/jmg.16.4.288
PMID:490582
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012672/
Abstract

This report describes a Negro family with the G gamma beta + type of hereditary persistence of fetal haemoglobin. Family members with levels of haemoglobin F of 17 to 23% had normal red cell indices, balanced globin chain synthesis, and a pancellular distribution of the fetal haemoglobin, showing that these subjects have a form of HPFH. The production of Hb A and C in addition to the large amount of Hb F in one family member showed that there was an active beta A gene in cis to the HPFH determinant, while structural analysis of the Hb F revealed the presence of only G gamma chains. The criteria for the diagnosis of G gamma beta + HPFH, and the relevance of such conditions to the control of globin gene expression, are discussed.

摘要

本报告描述了一个患有胎儿血红蛋白遗传性持续存在的Gγβ+型的黑人家庭。血红蛋白F水平为17%至23%的家庭成员红细胞指数正常，珠蛋白链合成平衡，胎儿血红蛋白呈全细胞分布，表明这些受试者患有某种形式的遗传性胎儿血红蛋白持续存在（HPFH）。一名家庭成员除了大量的血红蛋白F外还产生血红蛋白A和C，这表明在与HPFH决定簇顺式排列的位置上存在一个活跃的βA基因，而对血红蛋白F的结构分析显示仅存在Gγ链。文中讨论了Gγβ+ HPFH的诊断标准，以及此类情况与珠蛋白基因表达调控的相关性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9577/1012672/02dbc65329fb/jmedgene00293-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9577/1012672/ad9f2263db03/jmedgene00293-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9577/1012672/02dbc65329fb/jmedgene00293-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9577/1012672/ad9f2263db03/jmedgene00293-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9577/1012672/02dbc65329fb/jmedgene00293-0048-b.jpg

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Am J Hum Genet. 1983 Jul;35(4):611-20.
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本文引用的文献

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THE TURNOVER OF HEMOGLOBINS A, F, AND A(2) IN THE PERIPHERAL BLOOD OF THREE PATIENTS WITH THALASSEMIA.三名地中海贫血患者外周血中血红蛋白A、F和A₂的周转率
J Clin Invest. 1963 Nov;42(11):1678-88. doi: 10.1172/JCI104854.
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THE DISTRIBUTION OF HEMOGLOBIN TYPES IN THALASSEMIC ERYTHROCYTES.地中海贫血红细胞中血红蛋白类型的分布
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Hereditary persistence of fetal hemoglobin: a study of 79 affected persons in 15 Negro families in Baltimore.胎儿血红蛋白遗传性持续存在：对巴尔的摩15个黑人家庭中79名患者的研究。
J Med Genet. 1981 Feb;18(1):40-2. doi: 10.1136/jmg.18.1.40.
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Estimation of small percentages of foetal haemoglobin.微量胎儿血红蛋白的测定。
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Ultracentrifugal fractionation of human erythrocytes on the basis of cell age.基于细胞年龄对人红细胞进行超速离心分级分离。
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[Photometric evaluation of non-transparent paper-electropherograms].[非透明纸电泳图谱的光度评估]
Klin Wochenschr. 1957 Jun 15;35(12):635-6. doi: 10.1007/BF01481042.
7
The distribution of Fe59 tagged human erythrocytes in centrifuged specimens as a function of cell age.Fe59标记的人红细胞在离心标本中的分布与细胞年龄的关系。
J Clin Invest. 1957 May;36(5):676-9. doi: 10.1172/JCI103468.
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Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok).异常人类血红蛋白。通过色谱法分离和鉴定α链和β链，并测定两种新变体，即血红蛋白切萨皮克和血红蛋白J（曼谷）。
J Mol Biol. 1966 Aug;19(1):91-108. doi: 10.1016/s0022-2836(66)80052-9.
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The pattern of disordered haemoglobin synthesis in homozygous and heterozygous beta-thalassaemia.纯合子和杂合子β地中海贫血中血红蛋白合成紊乱的模式。
Br J Haematol. 1969 Mar;16(3):251-67. doi: 10.1111/j.1365-2141.1969.tb00400.x.
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Evidence for multiple structural genes for the gamma chain of human fetal hemoglobin.人类胎儿血红蛋白γ链存在多个结构基因的证据。
Proc Natl Acad Sci U S A. 1968 Jun;60(2):537-44. doi: 10.1073/pnas.60.2.537.