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在一项人群研究中检测到的撒丁岛α地中海贫血携带者的血液学特征。

Hematological characteristics of sardinian alpha-thalassemia carriers detected in a population study.

作者信息

Melis M A, Rosatelli C, Falchi A M, Angius A, Furbetta M, Galanello R, Cao A

出版信息

Acta Haematol. 1980;63(1):32-6. doi: 10.1159/000207365.

DOI:10.1159/000207365
PMID:6768207
Abstract

88 adults with thalassemia-like red cell indices, normal serum iron and normal hemoglobin (Hb) A2 and F levels, diagnosed in a mass screening had Hb H inclusion bodies studies (65 subjects) or Hb H inclusion bodies studies and globin chain synthesis analysis (23 subjects). The alpha/beta ratio of 0.70 +/- 0.10 was the same as in obligate alpha-thalassemia-1 (alpha-thal) carriers. Hb H inclusion bodies studies were found to be a reliable test for alpha-thal trait identification, resulting positive in approximately 70% of suspected carriers. The alpha-thal carrier defined by Hb H preparation or by globin chain synthesis had significant reduction in the mean Hb level, hematocrit, mean corpuscular hemoglobin and a significant increase in mean red cell count, but there was some overlap with controls.

摘要

在一次大规模筛查中被诊断出的88名具有地中海贫血样红细胞指数、血清铁正常且血红蛋白(Hb)A2和F水平正常的成年人,进行了Hb H包涵体研究(65名受试者)或Hb H包涵体研究及珠蛋白链合成分析(23名受试者)。0.70±0.10的α/β比值与纯合子α地中海贫血-1(α-地贫)携带者相同。发现Hb H包涵体研究是鉴定α-地贫特征的可靠检测方法,约70%的疑似携带者检测结果呈阳性。通过Hb H制备或珠蛋白链合成定义的α-地贫携带者,其平均Hb水平、血细胞比容、平均红细胞血红蛋白显著降低,平均红细胞计数显著增加,但与对照组存在一定重叠。

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Hematological characteristics of sardinian alpha-thalassemia carriers detected in a population study.在一项人群研究中检测到的撒丁岛α地中海贫血携带者的血液学特征。
Acta Haematol. 1980;63(1):32-6. doi: 10.1159/000207365.
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引用本文的文献

1
Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia.通过在撒丁岛进行携带者筛查和产前诊断预防纯合子β地中海贫血。
Am J Hum Genet. 1981 Jul;33(4):592-605.
2
Hemoglobin abnormalities. An evaluation on new-born infants and their mothers in a maternity unit close to Brazzaville (P.R. Congo).血红蛋白异常。对刚果共和国布拉柴维尔附近一家产科病房的新生儿及其母亲进行的评估。
Hum Genet. 1986 Sep;74(1):54-8. doi: 10.1007/BF00278785.