基于HbA2测定诊断β地中海贫血

[Diagnosis of beta-thalassemia on the basis of HbA2 determination].

作者信息

Fortová H, Slavíková V, Musil F, Suttnar J, Brabec V

机构信息

Ustav hematologie a krevní transfuze, Praha.

出版信息

Vnitr Lek. 1995 May;41(5):302-6.

PMID:7653059

Abstract

The increased level of HbA2 is a reliable marker of heterozygous beta-thalassaemia. The levels of HbA2 measured by three different methods were compared and the ranges for the normal and for the heterozygous beta-thalassaemia were assessed. The levels of HbA2 2.76 +/- 0.47% for normal (30 blood donors) and 4.62 +/- 0.77% for beta-thalassaemia (50 patients) were obtained by the chromatographic method 2.61 +/- 0.42% HbA2 for normal (30 blood donors) and 5.82 +/- 0.89% HbA2 for beta-thalassaemia (46 patients) were assessed by electrophoresis on hydragel (Sebia) and 2.8 +/- 0.62% HbA2 for normal (30 blood donors) and 6.04 +/- 0.96% HbA2 (47 patients) were found when using cellulose acetate electrophoresis. An increased level of foetal Hb was found in nine patients with beta-thalassaemia. The diagnosis of beta-thalassaemia was confirmed by molecular genetic methods in all cases with an elevated HbA2 level, while a normal HbA2 level did not rule out heterozygous beta-thalassaemia.

摘要

HbA2水平升高是杂合子β地中海贫血的可靠标志物。比较了用三种不同方法测得的HbA2水平，并评估了正常人和杂合子β地中海贫血患者的HbA2水平范围。通过色谱法测得正常人群（30名献血者）的HbA2水平为2.76±0.47%，β地中海贫血患者（50例）为4.62±0.77%；通过Hydragel（Sebia）电泳评估，正常人群（30名献血者）的HbA2为2.61±0.42%，β地中海贫血患者（46例）为5.82±0.89%；采用醋酸纤维素电泳时，正常人群（30名献血者）的HbA2为2.8±0.62%，β地中海贫血患者（47例）为6.04±0.96%。在9例β地中海贫血患者中发现胎儿血红蛋白水平升高。所有HbA2水平升高的病例均通过分子遗传学方法确诊为β地中海贫血，而HbA2水平正常并不能排除杂合子β地中海贫血。