云南省德宏州傣族育龄人群地中海贫血流行病学调查

doi:10.16352/j.issn.1001-6325.2022.10.1504

基础医学与临床 ›› 2022, Vol. 42 ›› Issue (10): 1504-1508.doi: 10.16352/j.issn.1001-6325.2022.10.1504

云南省德宏州傣族育龄人群地中海贫血流行病学调查

滕聪聪¹, 徐咏梅², 唐树萍³, 李勇⁴, 杨阳⁵, 龙岚¹, 张杰^5*

1.昆明理工大学医学院附属医院医学遗传科,云南昆明 650031;
德宏州妇幼保健院 2.检验科; 3.妇产科; 4.公共卫生管理科, 云南德宏 678400;
5.云南省第一人民医院医学遗传科,云南昆明 650032

收稿日期:2021-09-14 修回日期:2022-01-07 出版日期:2022-10-05 发布日期:2022-09-23
通讯作者: * kmzhjie@aliyun.com
基金资助:
国家自然科学基金(81860040)

Epidemiological investigation of thalassemia in gestational age population of Dai nationality in Dehong Prefecture, Yunnan Province

TENG Cong-cong¹, XU Yong-mei², TANG Shu-ping³, LI Yong⁴, YANG Yang⁵, LONG Lan¹, ZHANG Jie^5*

1. Department of Medical Genetics,the Affiliated Hospital of Medical School,Kunming University of Science and Technology, Kunming 650031;
2. Department of Laboratory Medicine; 3. Department of Obstetrics and Gynecology; 4. Department of Public Health Management,Dehong Maternity and Child Health Hospital,Dehong 678400;
5. Department of Medical Genetics, the First People's Hospital of Yunnan Province,Kunming 650032, China

Received:2021-09-14 Revised:2022-01-07 Online:2022-10-05 Published:2022-09-23
Contact: * kmzhjie@aliyun.com

摘要/Abstract

摘要： 目的了解云南省德宏地区傣族育龄人群地中海贫血(地贫)的基因携带率、基因突变类型及其血液学特征。方法应用二代测序技术对德宏地区傣族育龄人群进行地贫基因检测,采用血红蛋白电泳和血常规检测血液学特征,对血液学特征进行统计,分析血常规筛查的敏感性及特异性。结果在591例受检者中检出地中海贫血携带者289例,其中α-地贫基因突变携带率为39.09%(231/591),β-地贫基因突变携带率为15.06%(89/591)。研究共检出5种α-地贫基因突变类型和7种β-地贫基因突变类型。α-地贫突变基因型中,--^SEA的平均红细胞体积(MCV)和平均血红蛋白含量(MCH)偏低,基因型α^CSα的Hb A₂偏低(P＜0.05)。β-地贫突变基因型中,CD 26(G＞A)的MCH偏高,Hb A偏低(P＜0.05)。在血常规筛查地贫中,当MCV的截断值为83.55 fL时,具有最大约登指数;当MCH的截断值为27.95 pg时,具有最大约登指数。结论德宏傣族育龄人群地贫突变基因携带率较高,基因突变以－α^3.7和CD 26(G＞A)较为常见。

关键词: 地中海贫血, 傣族, 基因突变, 血液学特征, 流行病学调查

Abstract: Objective To investigate the gene carrying rate,gene mutation type and hematological characteristics of thalassemia in Dai nationality population of Dehong Prefecture, Yunnan Province. Methods A total of 591 Dai nationality gestational age population in Dehong were tested for thalassemia gene by next-generation sequencing technology. The sensitivity and specificity of the hemoglobin electrophoresis and blood routine tests were performed. Results A total of 289 cases (48.90%) were positive for thalassemia gene. Among them,231 cases were classified as α-thalassemia(39.09%) and 89 cases were β-thalassemia(15.06%). Five α-thalassemia genotypes and seven β-thalassemia genotypes were detected. For α-thalassemia, --^SEA showed comparatively lower values for MCV and MCH; α^CSα showed comparatively lower values for Hb A2 (P＜0.05). For the β-thalassemia,CD 26 (G＞A)had significantly lower Hb A values,and higher MCH values(P＜0.05). A new cut-off value for the thalassemia with the highest accuracy was proposed(MCV 83.55 fL,MCH 27.95 pg). Conclusions Thalassemia is common in Dai nationality population of Dehong. The most frequently identified types are －α^3.7 and CD 26 (G＞A).

Key words: thalassemia, Dai nationality, gene mutation, hematological characteristics, epidemiological investigation

中图分类号:

R394

滕聪聪, 徐咏梅, 唐树萍, 李勇, 杨阳, 龙岚, 张杰. 云南省德宏州傣族育龄人群地中海贫血流行病学调查[J]. 基础医学与临床, 2022, 42(10): 1504-1508.

TENG Cong-cong, XU Yong-mei, TANG Shu-ping, LI Yong, YANG Yang, LONG Lan, ZHANG Jie. Epidemiological investigation of thalassemia in gestational age population of Dai nationality in Dehong Prefecture, Yunnan Province[J]. Basic & Clinical Medicine, 2022, 42(10): 1504-1508.

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云南省德宏州傣族育龄人群地中海贫血流行病学调查

Epidemiological investigation of thalassemia in gestational age population of Dai nationality in Dehong Prefecture, Yunnan Province

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