[1]彭 鑫,潘 锋,陈艺心,等.重庆市渝东南地区人群珠蛋白生成障碍性贫血基因型与血液学特征分析研究[J].现代检验医学杂志,2026,41(01):121-127.[doi:10.3969/j.issn.1671-7414.2026.01.023]
　PENG Xin,PAN Feng,CHEN Yixin,et al.Analysis of Genotype and Hematological Characteristics of Thalassemia in Southeastern Chongqing[J].Journal of Modern Laboratory Medicine,2026,41(01):121-127.[doi:10.3969/j.issn.1671-7414.2026.01.023]
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重庆市渝东南地区人群珠蛋白生成障碍性贫血基因型与血液学特征分析研究()

《现代检验医学杂志》[ISSN:/CN:]

卷:
第41卷
期数:
2026年01期
页码:
121-127
栏目:
论著
出版日期:
2026-01-15

文章信息/Info

Title:
Analysis of Genotype and Hematological Characteristics of Thalassemia in Southeastern Chongqing
文章编号:
1671-7414（2026）01-121-07
作者:
彭 鑫a，潘 锋a，陈艺心b，梁 露a，冉 涛a，曾红鑫a，李 聪a
重庆大学附属黔江医院a.检验科；b.输血科，重庆 409000
Author(s):
PENG Xina，PAN Fenga，CHEN Yixinb，LIANG Lua，RAN Taoa，ZENG Hongxina，LI Conga
a. Department of Clinical Laboratory; b. Department of Blood Transfusion , Chongqing University Qianjiang Hospital, Chongqing 409000, China
关键词:
珠蛋白生成障碍性贫血; 基因型; 血液学特征; 筛查; 渝东南地区
分类号:
R556.61；Q786
DOI:
10.3969/j.issn.1671-7414.2026.01.023
文献标志码:
A
摘要:
目的分析重庆市渝东南地区人群珠蛋白生成障碍性贫血基因型分布及血液学特征。方法回顾性收集2022年1月至2023年11月重庆大学附属黔江医院珠蛋白生成障碍性贫血基因检测结果为阳性的患者资料，分析其基因型和血液学特征之间的关系。结果2022年1月至2023年11月行珠蛋白生成障碍性贫血基因检测者共计3022例，阳性280例，阳性率为9.27%，包括8种α-珠蛋白生成障碍性贫血（131例），9种β-珠蛋白生成障碍性贫血（144例），4种α复合β珠蛋白生成障碍性贫血（5例）。其中α-珠蛋白生成障碍性贫血主要基因型为-α3.7/αα(47.33%)、--SEA/αα(40.46%)；β-珠蛋白生成障碍性贫血主要基因型为41-42M(38.89%)、17M(31.94%)。6种高检出率珠蛋白生成障碍性贫血基因型为-α3.7/αα、--SEA/αα、-α4.2/αα、41-42M、17M、654M。其血液学特征主要表现为β-珠蛋白生成障碍性贫血患者Hb、MCV、MCH低于α-珠蛋白生成障碍性贫血，红细胞体积分布宽度（RDW）高于α-珠蛋白生成障碍性贫血,差异具有统计学意义（Z=-7.94~-5.96，均P<0.05）。珠蛋白生成障碍性贫血阳性患者在不同年龄段，即儿童组（0~6岁）的Hb、MCV、MCH低于成人组（>18岁），而RDW高于成人组，差异具有统计学意义（Z=-7.81~-3.21，均P<0.05）。结论重庆市渝东南地区的珠蛋白生成障碍性贫血基因型分布具有多样性和异质性，高检出率基因型的血液学特征表现不同；不同年龄段人群的血液学特征表现具有特异性。
Abstract:
Objective To analyze the genotype distribution and hematological characteristics of thalassemia in southeastern Chongqing. Methods The clinical data of patients with thalassemia gene positive from January 2022 to November 2023 in Chongqing University Qianjiang Hospital were collected, and the relationship between genotype and hematological characteristics was analyzed. Results A total of 3 022 patients were tested for thalassemia gene from January 2022 to November 2023, with 280 positive cases (9.27% positive rate), including 8 types of α-thalassemia (131 cases), 9 types of β-thalassemia (144 cases), and 4 types of α-complex β-thalassemia (5 cases). The main genotypes of α-thalassemia were -α3.7/αα(47.33%), --SEA/αα(40.46%), and the main genotypes of β-thalassemia were 41-42M(38.89%), 17M(31.94%). Six thalassemia genotypes with high detection rates were -α3.7/αα, --SEA/αα, -α4.2/αα, 41-42M, 17M, 654M, which hematological characteristics of β-thalassemia patients Hb, MCV, MCH were lower than that of α-thalassemia, and red blood cell distribution width (RDW) was higher than that of α-thalassemia(Z=-7.94~ -5.96, all P<0.05),and the differences were statistically significant. In different age groups, Hb, MCV and MCH of children (0~6 years old) were lower than those of adults (>18 years old), while RDW of children was higher than that of adults, and the differences were statistically significant(Z=-7.81~ -3.21, all P<0.05). Conclusions The distribution of thalasia genotypes in southeastern Chongqing was diverse and heterogeneous, and the hematological characteristics of high detection rate genotypes were different. Hematological characteristics exhibit variations across different age groups.

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备注/Memo

备注/Memo:
基金项目：吉首大学指导性项目（Jdzd230226）；黔科计项目（2024034）；黔科计项目（2024009）。
作者简介：彭鑫（1996-），女，本科，检验技师，研究方向：临床免疫学，E-mail：PXpengxinPX@163.com。
通讯作者：潘锋（1985-），男，硕士，副主任技师，研究方向：临床检验诊断学，E-mail：perphone@126.com。
更新日期/Last Update: 2026-01-15