- 期刊
三種不同血紅素A2分析法對地中海貧血診斷可靠性的探討
Evaluation of the Accuracy of HbA2 for Diagnosis of Thalassemia Using Three Traditional Methods
摘要
Background. Thalassemia is a common hereditary disease in Taiwan. Clinically, differentiating between the different types of thalassemia (α or β) depends on the HbA2 value. There are at least three methods used to measure HbA2, however, there is no consensus on which method is most accurate. We compared these methods in order to explore their accuracy. Methods. We used: 1) cellulose acetate electroPhoresis; 2) agarose gel electrophoresis and 3) high performance liquid chromatography (HPLC) to detect the HbA2 values, and then used a PCR-based method to detect the mutations of hemoglobin genes in 92 cases of thalassemia to evaluate the accuracy of these three methods. Results. Out of 64 cases with α-thalassemia, 14 cases were determined by the cellulose method to have HbA2?3.5%, and 4 to have HbA2?4.0%; the agarose gel electrophoresis method detected 3 cases with HbA2?3.5% and 1 with HbA2?4.0%; there were no cases with HbA2 levels over 35% using the HPLC method. Out of 28 cases with s -thalassemia minor, 3 cases using the cellulose acetate method, 2 cases using the agarose gel method, and 2 cases using the HPLC method were found to have HbA2 levels less than 3.5% or 4.0%. Conclusions. The detection of HbA2 using traditional methods is not accurate enough to be used for prenatal diagnosis. We suggest that both couple and fetus be analyzed for both α and β thalassemic mutations when either couple has β-thalassemia minor. ( Mid Taiwan J Med 2002;7:44-8)
並列摘要
Background. Thalassemia is a common hereditary disease in Taiwan. Clinically, differentiating between the different types of thalassemia (α or β) depends on the HbA2 value. There are at least three methods used to measure HbA2, however, there is no consensus on which method is most accurate. We compared these methods in order to explore their accuracy. Methods. We used: 1) cellulose acetate electroPhoresis; 2) agarose gel electrophoresis and 3) high performance liquid chromatography (HPLC) to detect the HbA2 values, and then used a PCR-based method to detect the mutations of hemoglobin genes in 92 cases of thalassemia to evaluate the accuracy of these three methods. Results. Out of 64 cases with α-thalassemia, 14 cases were determined by the cellulose method to have HbA2?3.5%, and 4 to have HbA2?4.0%; the agarose gel electrophoresis method detected 3 cases with HbA2?3.5% and 1 with HbA2?4.0%; there were no cases with HbA2 levels over 35% using the HPLC method. Out of 28 cases with s -thalassemia minor, 3 cases using the cellulose acetate method, 2 cases using the agarose gel method, and 2 cases using the HPLC method were found to have HbA2 levels less than 3.5% or 4.0%. Conclusions. The detection of HbA2 using traditional methods is not accurate enough to be used for prenatal diagnosis. We suggest that both couple and fetus be analyzed for both α and β thalassemic mutations when either couple has β-thalassemia minor. ( Mid Taiwan J Med 2002;7:44-8)
延伸閱讀
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