“地贫”合并G6PD缺陷症G6PD活性的实验研究

The activity range of G6PD in thalassemia combinded G6PD deficiency in Lab and it′s clinical significance.

目的 探讨地中海贫血（地贫）及地贫合并G6PD缺陷症的G6PD活，睦范围，提高女性地贫合并G6PD缺陷者的诊断率。方法 用GAP-PCR法检测α-THAL基因：反向点杂交（RDB）法检测β-THAL基因及家系来验证用电泳法发现的各种地贫；用G6PD／6PGD酶直接比值法（紫外比值法）及家系来确诊G6PD缺陷症。结果 重型β地贫、HBH病、轻型β、轻型α地贫的G6PD活性分别是正常人的3倍以上、2-3倍、2倍、1．5倍；地贫合并G6PD缺陷的女性杂合子62％以上G6PD活性在正常范围。结论 1.地贫合并G6PD缺陷的女性杂合子，若单纯检测G6PD活性，漏诊达62％。用紫外比值法90％可以检出；2．部分地贫合并G6PD缺陷症的女性杂合子，如果G6PD／6PGD比值结果在1．01-1．06之间，做家系G6PD检测或基因检测。可避免漏诊。

Objective： Discuss the activity range of G6PD in thalassemia combinded with G6PD deficiency, to reduce the mistake in diagnosis from the result. Methods. Use GAP - PCR to test α - THAL gene and reverse dot - blotting to test β - THAL gene to confirm thalassemia that well discovered by electrophoresis; use G6PD/6PGD ratio to confirm G6PD deficience. Results： The activity of the G6PD in cooley＇s anemia hemoglobin H disease β - thalassemia minor, α - thalassemia minor is 3, 2 -3, 2, 1.5 times higher than normal More than 62% G6PD activity are in normal range in female heterogy goto with thalassemia eombinded with G6PD deficiency. Conclusion： 1. Diagnosing G6PD deficiency use only the activity of G6PD in women paticnt is low efficiency; Use UV spectrophotometer, the rate of diagnosis is 90%. 2. If the rate of G6PD/6PGD between 1.01 - 1.06, the patient should go to take the genealogy gene survey or gene test.