地中海贫血携带（患）者基因型分布及HbA2参数特征

doi:10.3969/j.issn.1673-8640.2018.09.007

摘要/Abstract

摘要：

目的分析地中海贫血（简称地贫）携带（患）者基因型分布及血红蛋白（Hb）A₂的参数特征。方法回顾分析2 194例α-地贫和970例β-地贫女性携带（患）者的基因型分布以及其中1 438例α-地贫和646例β-地贫携带（患）者HbA₂的水平。选取1 629名非地贫健康女性,作为对照组。结果 α-地贫组分为静止型组（740例）、标准型组（1 400例）和HbH病组（54例）。静止型组有5种基因型,以-α^3.7/αα和-α^4.2/αα为主;标准型组有9种基因型,以--^SEA/αα为主;HbH病组有5种基因型,以-α^3.7/--^SEA为主。对照组、静止型组、标准型组和HbH病组的HbA₂水平依次降低（P<0.05）,但对照组与静止型组比较差异无统计学意义（P>0.05）。β-地贫组分为β^E-地贫组（26例）、β⁺-地贫组（400例）和β⁰-地贫组（544例）,β^E-地贫组只有β^CD26/β^N 1种基因型;β⁺-地贫组有4种基因型,以β^IVS-Ⅱ-654/β^N和β^-28/β^N为主;β⁰-地贫组有8种基因型,以β^CD41-42/β^N和β^CD17/β^N为主。对照组、β⁺-地贫组、β⁰-地贫组和β^E-地贫组的HbA₂水平依次升高（P<0.05）。结论 HbA₂对β-地贫和HbH病的筛查参考价值较大,遗传咨询中应同时结合血常规检测结果进行分析,从而避免静止型、标准型的漏检。

关键词: 地中海贫血, 基因型, 血红蛋白

Abstract:

Objective To analyze the genotype distribution and hemoglobin（Hb）A₂ parameter characteristic in thalassemia carriers or patients. Methods The genotype distribution of 2 194 α-thalassemia and 970 β-thalassemia female carriers or patients was analyzed retrospectively,and the HbA₂ levels of 1 438 α-thalassemia and 646 β-thalassemia carriers or patients were also analyzed. A total of 1 629 healthy females without thalassemia were enrolled as control group. Results The α-thalassemia group included silent group（740 cases）,trait group（1 400 cases） and HbH disease group（54 cases）. There were 5 genotypes in silent group,and -α^3.7/αα and -α^4.2/αα were common. There were 9 genotypes in trait group,and --^SEA/αα was common. There were 5 genotypes in HbH disease group,and -α^3.7/--^SEA was common. There was no statistical significance for HbA₂ levels between control and silent groups（P>0.05）,and the levels of HbA₂ were decreased in turn in control,silent,trait and HbH disease groups（P<0.05）. The β-thalassemia group included β^E-thalassemia group（26 cases）,β⁺-thalassemia group（400 cases） and β⁰-thalassemia group（544 cases）. Just 1 genotype was identified in β^E-thalassemia group,which was β^CD26/β^N. Four genotypes were identified in β⁺-thalassemia group,of which β^IVS-Ⅱ-654/β^N and β^-28/β^N were common. Eight genotypes were identified in β⁰-thalassemia group,of which β^CD41-42/β^N and β^CD17/β^N were common. HbA₂ levels were increased in the order of control,β⁺-thalassemia,β⁰-thalassemia and β^E-thalassemia groups（P<0.05）. Conclusions HbA₂ is important for β-thalassemia and HbH disease screening,and the results of blood routine test should be also considered in genetic counseling in case of silent and trait α-thalassemia being ignored.

Key words: Thalassemia, Genotype, Hemoglobin

中图分类号:

R446.1

罗茗月, 肖克林, 蓝慧娟, 麦光兴, 熊礼宽. 地中海贫血携带（患）者基因型分布及HbA₂参数特征[J]. 检验医学, 2018, 33(9): 803-806.

LUO Mingyue, XIAO Kelin, LAN Huijuan, MAI Guangxing, XIONG Likuan. Genotype distribution and HbA₂ parameter characteristic in thalassemia carriers or patients[J]. Laboratory Medicine, 2018, 33(9): 803-806.

图/表 3

参考文献 15

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组别	基因型	例数	构成比（%）
α-地贫组
静止型组	-α^3.7/αα	432	19.690
	-α^4.2/αα	155	7.065
	α^CSα/αα	73	3.327
	α^QSα/αα	42	1.914
	α^WSα/αα	38	1.730
标准型组	--^SEA/αα	1 365	62.215
	-α^3.7/-α^4.2	12	0.547
	-α^3.7/α^CSα	4	0.182
	-α^3.7/α^WSα	3	0.137
	-α^4.2/α^CSα	1	0.046
	-α^4.2/α^WSα	3	0.137
	-α^3.7/-α^3.7	8	0.365
	-α^4.2/-α^4.2	2	0.091
	α^WSα/α^WSα	2	0.091
HbH病组	-α^3.7/--^SEA	24	1.094
	α^WSα/--^SEA	14	0.638
	-α^4.2 /--^SEA	11	0.501
	α^CSα/--^SEA	2	0.091
	α^QSα/--^SEA	3	0.137
β-地贫组
β⁰-地贫组	β^CD41-42/β^N	335	34.536
	β^CD17/β^N	145	14.948
	β^CD71-72/β^N	23	2.371
	β^CD27/28/β^N	17	1.753
	β^CD43/β^N	11	1.134
	β^CD14-15/β^N	6	0.619
	β^IVS-I-I/β^N	4	0.412
	β^Int /β^N	3	0.309
β⁺-地贫组	β^IVS-Ⅱ-654/β^N	271	27.948
	β^-28/β^N	115	11.856
	β^-29/β^N	11	1.134
	β^CAP/β^N	3	0.309
β^E-地贫组	β^CD26/β^N	26	2.680

组别	基因型	例数	构成比（%）
α-地贫组
静止型组	-α^3.7/αα	432	19.690
	-α^4.2/αα	155	7.065
	α^CSα/αα	73	3.327
	α^QSα/αα	42	1.914
	α^WSα/αα	38	1.730
标准型组	--^SEA/αα	1 365	62.215
	-α^3.7/-α^4.2	12	0.547
	-α^3.7/α^CSα	4	0.182
	-α^3.7/α^WSα	3	0.137
	-α^4.2/α^CSα	1	0.046
	-α^4.2/α^WSα	3	0.137
	-α^3.7/-α^3.7	8	0.365
	-α^4.2/-α^4.2	2	0.091
	α^WSα/α^WSα	2	0.091
HbH病组	-α^3.7/--^SEA	24	1.094
	α^WSα/--^SEA	14	0.638
	-α^4.2 /--^SEA	11	0.501
	α^CSα/--^SEA	2	0.091
	α^QSα/--^SEA	3	0.137
β-地贫组
β⁰-地贫组	β^CD41-42/β^N	335	34.536
	β^CD17/β^N	145	14.948
	β^CD71-72/β^N	23	2.371
	β^CD27/28/β^N	17	1.753
	β^CD43/β^N	11	1.134
	β^CD14-15/β^N	6	0.619
	β^IVS-I-I/β^N	4	0.412
	β^Int /β^N	3	0.309
β⁺-地贫组	β^IVS-Ⅱ-654/β^N	271	27.948
	β^-28/β^N	115	11.856
	β^-29/β^N	11	1.134
	β^CAP/β^N	3	0.309
β^E-地贫组	β^CD26/β^N	26	2.680

组别	例数	HbA₂（%）
对照组	1 629	2.60±0.46
α-地贫组
静止型组	487	2.60±0.28
标准型组	922	2.47±0.23^*#
HbH病组	29	1.86±0.60^*#△

组别	例数	HbA₂（%）
对照组	1 629	2.60±0.46
α-地贫组
静止型组	487	2.60±0.28
标准型组	922	2.47±0.23^*#
HbH病组	29	1.86±0.60^*#△

组别	例数	HbA₂（%）
对照组	1 629	2.60±0.46
β-地贫组
β^E-地贫组	17	26.28±1.41^*
β⁺-地贫组	283	5.02±0.46^*#
β⁰-地贫组	346	5.21±0.39^*#△

地中海贫血携带（患）者基因型分布及HbA₂参数特征

Genotype distribution and HbA₂ parameter characteristic in thalassemia carriers or patients

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