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杂合子β地中海贫血:在墨西哥并不罕见。

Heterozygous beta-thalassemia: not infrequent in Mexico.

作者信息

Ruiz-Argüelles G J, López-Martínez B, Ruiz-Reyes G

机构信息

Centro de Hematología y Medicina Interna de Puebla, Puebla, Mexico.

出版信息

Arch Med Res. 2001 Jul-Aug;32(4):293-5. doi: 10.1016/s0188-4409(01)00284-3.

Abstract

BACKGROUND

The prevalence of beta-thalassemia in Mexico is not known in detail.

METHODS

Data of studies investigating abnormal hemoglobins between September 1987 and November 2000 were analyzed; in addition, data of red-blood-cell indices and clinical features were analyzed in patients identified as carriers of beta-thalassemia.

RESULTS

In 1,639 prospective studies looking for abnormal hemoglobins, 429 disclosed some abnormality; of these, 319 cases displayed abnormally high levels of hemoglobin A2, thus consistent with the diagnosis of beta-thalassemia. This hemoglobin abnormality represented 74.2% of all abnormalities, both quantitative and qualitative, of the molecule of hemoglobin. There were 317 heterozygotes and only two homozygotes. We have previously shown that the most frequent cause of anemia as the iatrotropic condition in Mexican mestizos is iron deficiency. We found that iron deficiency is 11.5 times more frequent than beta-thalassemia and that the latter is 1.3 times more frequent than macrocytic/megaloblastic anemia.

CONCLUSIONS

beta-thalassemia should not be considered as infrequent in Mexico, and individuals with red blood cell microcytosis and/or hypochromia with or without anemia should be screened for thalassemia.

摘要

背景

墨西哥β地中海贫血的患病率尚无详细数据。

方法

分析了1987年9月至2000年11月期间调查异常血红蛋白的研究数据;此外,还对被鉴定为β地中海贫血携带者的患者的红细胞指数和临床特征数据进行了分析。

结果

在1639项寻找异常血红蛋白的前瞻性研究中,429项发现了一些异常情况;其中,319例血红蛋白A2水平异常升高,符合β地中海贫血的诊断。这种血红蛋白异常占血红蛋白分子所有定量和定性异常的74.2%。有317例杂合子,只有2例纯合子。我们之前已经表明,在墨西哥混血儿中,作为医源性疾病的贫血最常见的原因是缺铁。我们发现缺铁的发生率比β地中海贫血高11.5倍,而β地中海贫血的发生率比大细胞性/巨幼细胞性贫血高1.3倍。

结论

在墨西哥,不应认为β地中海贫血不常见,对于有或无贫血的红细胞小细胞性和/或低色素性个体,应进行地中海贫血筛查。

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