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[利古里亚一个地方卫生单位辖区内地中海贫血和血红蛋白病特征的流行病学研究]

[Epidemiologic research for thalassemia and hemoglobinopathy traits in the territory of a local health unit in Liguria].

作者信息

Perutelli P, Scuderi F, Ragazzini G, Arigliani R, Bottini W, Mori P G

机构信息

IV Divisione di Pediatria, Istituto G. Gaslini, Genova, Italia.

出版信息

Pediatr Med Chir. 1988 Jan-Feb;10(1):77-9.

PMID:3375129
Abstract

The authors investigated the incidence of thalassemia traits and hemoglobinopathies in western Liguria, where up to 70% of people comes from other italian regions, particularly from the South. The authors screened 442 primary school pupils in Albenga and Andora (Savona). Laboratory investigations permitted to detect 19 thalassemia trait carrier subjects (4.30% of the total examined): 12 of them were diagnosed heterozygous for beta-thalassemia, 6 for alpha-thalassemia, and 1 for Hb S. Authors would underline that more than half of the screening positive subjects resulted carrier of beta-thalassemia or Hb S trait, both potentially able to give origin to severe diseases: homozygous beta-thalassemia, sickle cell anemia, and beta-thalassemia/Hb S double heterozygosity.

摘要

作者们调查了利古里亚西部地中海贫血特征和血红蛋白病的发病率,该地区高达70%的人口来自意大利其他地区,尤其是南部地区。作者们对阿尔本加和安多拉(萨沃纳)的442名小学生进行了筛查。实验室检查发现了19名地中海贫血特征携带者(占总检查人数的4.30%):其中12人被诊断为β地中海贫血杂合子,6人为α地中海贫血,1人为血红蛋白S。作者们强调,超过一半的筛查阳性受试者是β地中海贫血或血红蛋白S特征的携带者,这两者都有可能引发严重疾病:纯合子β地中海贫血、镰状细胞贫血以及β地中海贫血/血红蛋白S双重杂合子。

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