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β+地中海贫血特征:血液学和血红蛋白合成研究

beta+-Thalassemia trait: hematologic and hemoglobin synthesis studies.

作者信息

Pootrakul S, Assawamunkong S, Na-Nakorn S

出版信息

Hemoglobin. 1976;1(1):75-83. doi: 10.3109/03630267609031023.

DOI:10.3109/03630267609031023
PMID:1052172
Abstract

In Thailand, two types of high Hb A2-beta-thalassemia genes: beta0-thalassemia (beta0-thal) or classical beta-thalassemia and beta+-thalassemia (beta+-thal) or mild beta-thalassemia exist. This study presents hematologic data and globin chain synthesis in peripheral blood of the genuine beta+-thal heterozygotes in comparison with those of the beta0-thal heterozygotes. Thirty individuals of Thai and Chinese extraction with the beta+-thal heterozygosity were hematologically examined. The hematologic means of hemoglobin concentration, MCV, MCH, MCHC, Hb A2 and alkali denaturation hemoglobin of the beta+-thal traits were, 11.7 g%, 67.8 mu3, 21.5 gammagamma, 32.1%, 4.94% and 1.20% respectively. These were not statistically different from those of the beta0-thal traits of our previous study(1). The globin chain synthesis in reticulocytes were performed by incorporation of 3H-Leucine for 3 hours. The mean of total radioactivity alpha/beta ratio in 11 normal controls was 1.07 +/- SD 0.03. The mean of alpha/beta ratio in 9 beta+-thal traits was 2.03 +/- SD 0.10 which was significantly different from that in 7 beta0-thal traits of 2.28 +/- SD 0.07. Our globin chain synthesis thus appears to be helpful of discriminating the beta+-thal trait from the beta0-thal trait.

摘要

在泰国,存在两种类型的高Hb A2-β地中海贫血基因:β0地中海贫血(β0-地贫)或经典β地中海贫血,以及β+地中海贫血(β+-地贫)或轻度β地中海贫血。本研究呈现了纯合β+-地贫杂合子与β0-地贫杂合子外周血的血液学数据和珠蛋白链合成情况。对30名具有β+-地贫杂合性的泰国和华裔个体进行了血液学检查。β+-地贫特征的血红蛋白浓度、平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)、平均红细胞血红蛋白浓度(MCHC)、Hb A2和碱变性血红蛋白的血液学均值分别为11.7 g%、67.8 μ3、21.5 γγ、32.1%、4.94%和1.20%。这些与我们之前研究(1)中β0-地贫特征的数据无统计学差异。通过掺入3H-亮氨酸3小时来进行网织红细胞中的珠蛋白链合成。11名正常对照的总放射性α/β比值均值为1.07±标准差0.03。9名β+-地贫特征个体的α/β比值均值为2.03±标准差0.10,这与7名β0-地贫特征个体的2.28±标准差0.07有显著差异。因此,我们的珠蛋白链合成似乎有助于区分β+-地贫特征和β0-地贫特征。

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引用本文的文献

1
Haematological characteristics of the beta 0 thalassaemia trait in Sardinian children.撒丁岛儿童β0地中海贫血特征的血液学特点
J Clin Pathol. 1980 Oct;33(10):946-8. doi: 10.1136/jcp.33.10.946.
2
Homozygous haemoglobin Constant Spring: a need for revision of concept.纯合子血红蛋白恒春型:概念需修订。
Hum Genet. 1981;59(3):250-5. doi: 10.1007/BF00283674.
3
Beta-Thalassaemia types in southern Sardinia.撒丁岛南部的β地中海贫血类型
J Med Genet. 1981 Jun;18(3):196-9. doi: 10.1136/jmg.18.3.196.
4
Alpha zero- and beta zero-thalassemia in a Thai family: unusually mild homozygous beta zero-thalassemia without alpha-globin gene deletion.一个泰人家族中的α0和β0地中海贫血:异常轻度的纯合β0地中海贫血且无α珠蛋白基因缺失。
Hum Genet. 1985;69(4):375-7. doi: 10.1007/BF00291658.