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目的:通过对中山小榄地区646例新生儿脐血红细胞葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查结果的分析,了解小榄地区G6PD缺乏症的特征。方法:选择孕妇及其新生儿各646例,采用速率法对孕妇及其新生儿脐血进行G6PD缺乏症筛查。结果:①在小榄地区新生儿脐血G6PD缺乏筛查中,总缺乏率为9.1%,其中男性缺乏率为11.8%(36/306),高于女性缺乏率(P<0.05)。②男性G6PD活性为(2.40±2.51)U/gHb,低于女性G6PD活性(10.21±2.33)U/gHb(P<0.05)。③在G6PD缺乏的孕妇所生子女中,男性新生儿脐血缺乏率为45.5%,女性新生儿脐血缺乏率38.9%,男性新生儿脐血缺乏率与女性相比无统计学差异(P>0.05)。④男性新生儿高胆红素血症发生率为19.4%,女性新生儿高胆红素血症发生率13.0%,差异无统计学意义(P>0.05)。结论:①小榄地区是新生儿脐血G6PD缺乏症高发区,以男性多见而严重;②母亲G6PD缺乏者,其新生儿G6PD缺乏率高,属于不完全显性遗传;③G6PD缺乏是新生儿发生高胆红素血症的病因之一。
OBJECTIVE: To investigate the characteristics of G6PD deficiency in 646 newborns in Xiaolan district of Zhongshan City by analyzing the screening results of G6PD deficiency. Methods: A total of 646 pregnant women and their newborns were selected. The G6PD deficiency screening of pregnant women and their newborn umbilical cord blood was carried out by the rate method. Results: ①In G6PD screening screening of neonatal umbilical cord blood in Xiaolan district, the total lack rate was 9.1%, of which the male lack rate was 11.8% (36/306), higher than the female lack rate (P <0.05). ② The G6PD activity of male was (2.40 ± 2.51) U / gHb, lower than that of female G6PD (10.21 ± 2.33) U / gHb (P <0.05). (3) Among the children born to G6PD-deficient pregnant women, the rate of umbilical cord deficiency in male neonates was 45.5% and that of female neonates was 38.9%. There was no significant difference in the rate of umbilical cord blood deficiency among male neonates (P> 0.05). ④ Male neonatal hyperbilirubinemia incidence rate was 19.4%, female neonatal hyperbilirubinemia incidence rate of 13.0%, the difference was not statistically significant (P> 0.05). Conclusion: ① Siu Lam area is a high risk area of neonatal cord blood G6PD deficiency, which is more common and serious in males; ②GMDPD deficiency in mothers with high neonatal G6PD deficiency rate is incompletely inherited; ③G6PD deficiency is a newborn One of the causes of hyperbilirubinemia.