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一种检测轻型β地中海贫血的策略。

A strategy to detect beta-thalassaemia minor.

作者信息

Shine I, Lal S

出版信息

Lancet. 1977 Mar 26;1(8013):692-4. doi: 10.1016/s0140-6736(77)92128-6.

Abstract

Over the past three years 25 302 adults in Kentucky have been tested for haemoglobinopathies, and of these, haemoglobin A2 was measured on 3734, 1973 with microcytosis and 1761 within the normal range. The best methods of detecting beta-thalassaemia minor using red-blood-cell indices were compared. No method detected all heterozygotes. A new method was devised consisting of three parts: (1) haemoglobin electrophoresis, (2) calculation of the product of the square of the mean corpuscular volume (M.C.V.) multiplied by the mean corpuscular haemoglobin (M.C.H.) measured in units of one hundred, (3) A2 determination on all AA samples with (M.C.V.)2 X M.C.H. less than 1530 and on those with variant genotypes consistent with thalassaemia. In this series this new method detected 137 out of 138 heterozygotes with 4-4% false-positives.

摘要

在过去三年里,肯塔基州的25302名成年人接受了血红蛋白病检测,其中3734人检测了血红蛋白A2,1973人有小红细胞症,1761人在正常范围内。对使用红细胞指数检测轻型β地中海贫血的最佳方法进行了比较。没有一种方法能检测出所有杂合子。设计了一种新方法,该方法由三部分组成:(1)血红蛋白电泳;(2)计算平均红细胞体积(M.C.V.)的平方乘以平均红细胞血红蛋白(M.C.H.)(以百为单位)的乘积;(3)对所有(M.C.V.)2×M.C.H.小于1530的AA样本以及那些具有与地中海贫血一致的变异基因型的样本进行A2测定。在这个系列中,这种新方法在138名杂合子中检测出了137名,假阳性率为4.4%。

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