Haemoglobinopathy analyses in the Netherlands:: a report of an in vitro globin chain biosynthesis survey using a rapid, modified method

被引：32

作者：

Giordano, PC ^{[1
]}

Van Delft, P ^{[1
]}

Batelaan, D ^{[1
]}

Harteveld, CL ^{[1
]}

Bernini, LF ^{[1
]}

机构：

[1] Leiden Univ, Med Ctr, Dept Human & Clin Genet, Leiden, Netherlands

来源：

CLINICAL AND LABORATORY HAEMATOLOGY | 1999年 / 21卷 / 04期

关键词：

haemoglobinopathies; HbS; HbC; HbE; thalassaemia; globin chain synthesis;

D O I：

10.1046/j.1365-2257.1999.00197.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The paper reports the results obtained from the study of 949 patients examined for a suspected alpha- or beta-thalassaemia using a rapid modified method of in vitro biosynthesis determination. Part of the results have been evaluated in correlation with the different molecular defects, defects combinations and with the presence of abnormal haemoglobins. The validity of the method for diagnosis of thalassaemia and particularly for the analysis of complex defects combinations which may occur in multiethnic populations is illustrated. The technology of the modified method is thoroughly described and the influence of the factors interfering with the reliability of the experiments is discussed.

引用

页码：247 / 255

页数：9

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