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[遗传性球形红细胞增多症——红细胞膜蛋白缺乏症的患病率]

[Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency].

作者信息

Granjo Elisa, Manata Pedro, Torres Noémia, Rodrigues Lurdes, Ferreira Fátima, Bauerle Roswitha, Quintanilha Alexandre

机构信息

Serviço de Hematologia Clínica, Hospital de S. João, Porto.

出版信息

Acta Med Port. 2003 Mar-Apr;16(2):65-9.

Abstract

The authors studied the relative prevalence of erythroid cytoskeletal protein defects and their relationship with the clinical course of Hereditary Spherocytosis (HS) in 39 Portuguese patients of North of Portugal (25 families). This study showed that, in the North of Portugal, HS is primarily due to anquirin deficiency (72%), followed by band 3 (20%). These findings are similar to the published data in other Caucasian populations. Anquirin primary defects have been difficult to diagnose before splenectomy, due to high reticulocytes counts.

摘要

作者对葡萄牙北部39名患者(25个家庭)的红细胞细胞骨架蛋白缺陷的相对患病率及其与遗传性球形红细胞增多症(HS)临床病程的关系进行了研究。该研究表明,在葡萄牙北部,HS主要是由于锚蛋白缺乏(72%),其次是带3蛋白缺乏(20%)。这些发现与其他白种人群体中公布的数据相似。由于网织红细胞计数较高,在脾切除术前很难诊断出锚蛋白原发性缺陷。

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