Analysis of gene distribution and hematological characteristics of thalassemia in women of childbearing age in Yuhuan, Zhejiang Province

doi:10.3877/cma.j.issn.2095-5820.2025.04.004

Abstract

Abstract:

Objective

To characterize the genotype distribution and hematological profiles of thalassemia carriers among women of childbearing age in Yuhuan, Zhejiang Province, thereby providing a scientific basis for thalassemia screening and prevention.

Methods

From May 1, 2021 to February 28, 2022, routine blood tests were performed on women aged 15–49 years at Yuhuan Maternal and Child Health Hospital. Individuals with hemoglobin (Hb)＜115 g/L and mean corpuscular volume (MCV)＜82 fL, or Hb＜115 g/L and mean corpuscular hemoglobin (MCH)＜27 pg, were further subjected to thalassemia gene detection and high-resolution hemoglobin electrophoresis. The hematological results of patients with different genotype abnormalities were analyzed.

Results

A total of 2039 women of childbearing age were included. Among them, 318 subjects meeting the criteria of Hb＜115 g/L with MCV＜82 fL, or Hb＜115 g/L with MCH＜27 pg underwent thalassemia gene detection. A total of 64 thalassemia gene carriers were identified, with a detection rate of 20.13% (64/318). Among them, 53 cases carried α-thalassemia genes, predominantly SEA type and 3.7 type; 10 cases carried β-thalassemia genes, predominantly IVS-Ⅱ-654 point mutation; and 1 case carried α/β compound thalassemia gene, with the genotype of CS+IVS-Ⅱ-654.

Conclusions

The α-thalassemia genes in women of childbearing age in Yuhuan area are predominantly SEA type heterozygote (--/αα) and 3.7 type heterozygote (-α/αα), while the β-thalassemia gene is predominantly IVS-Ⅱ-654. Characteristic analysis based on the hematological results of patients with genetic abnormalities can provide a reference for thalassemia screening in this region.

Key words: thalassemia, genotype distribution, hematological parameters, hemoglobin electrophoresis, anemia screening

Zaiju Lin, Lingyun Hu, Xueli Wang, Aizhen Yang, Yan Zhang, Jinfeng Dong, Yuanyuan Zhou, Junquan Liu, Heng Yan. Analysis of gene distribution and hematological characteristics of thalassemia in women of childbearing age in Yuhuan, Zhejiang Province[J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2025, 13(04): 213-219.

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhlcsysgldzzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.2095-5820.2025.04.004

https://zhlcsysgldzzz.cma-cmc.com.cn/EN/Y2025/V13/I04/213

Figures/Tables 5

年龄/岁	样本数/例	比例/%	Hb/g/L	MCH/pg	MCHC/g/L	MCV/fL	RBC/×10¹²/L	RDW/%
15~29	897	43.99	130.33±11.44	29.88±2.07	315.42±12.76	94.77±6.32	4.37±0.41	13.96±1.27
30~39	872	42.77	128.43±13.19	29.66±2.70	312.91±14.24	94.76±7.50	4.34±0.39	14.24±1.79
40~49	270	13.24	128.76±16.18	29.04±3.50	311.01±15.82	93.16±9.02	4.45±0.36	14.63±2.17
合计	2039	100.00	129.30±12.94	29.64±2.66	313.79±13.94	94.44±7.46	4.38±0.41	14.17±1.66

检测项目	基因型/突变位点	结果异常/例	异常率/%
α-地中海贫血基因	SEA型，杂合子（--/αα）	31	9.75
	3.7型，杂合子（-α/αα）	14	4.40
	3.7型，纯合子（-α/-α）	1	0.31
	4.2型，杂合子（-α/αα）	1	0.31
	QS	1	0.31
	WS	2	0.63
	CS	2	0.63
	3.7型，杂合子（-α/αα）+CS	1	0.31
β-地中海贫血基因	CD17	1	0.31
	IVS-II-654	6	1.89
	CD41-42	2	0.63
	βE	1	0.31
α/β复合型地中海贫血基因	CS +IVS-II-654	1	0.31

项目	HbA/%		HbA2/%		HbF/%		Hb/g/L		MCH/pg
项目	$x ¯$ ±s	P值	$x ¯$ ±s	P值	$x ¯$ ±s	P值	$x ¯$ ±s	P值	$x ¯$ ±s	P值
对照组（n=254）	97.64±2.92	-	2.02±0.32	-	0.12±0.46	-	115.67±18.66	-	26.49±4.06	-
地贫组（n=64）	96.42±3.72	＜0.001	2.66±1.17	＜0.001	0.44±1.38	＜0.001	117.52±11.10	0.752	23.39±2.66	＜0.001
α-型地贫组^{* #}（n=53）	97.36±1.32	＜0.001	2.21±0.49	0.013	0.36±1.42	0.35	117.36±11.28	-	23.68±2.48	＜0.001
β-型地贫组^#（n=10）	92.00±7.51	＜0.001	4.70±1.06	＜0.001	0.50±0.53	＜0.001	118.20±11.24	-	22.00±3.37	0.002
项目	MCHC/g/L		MCV/fL		RBC/×10¹²/L		RDW/%
项目	$x ¯$ ±s	P值	$x ¯$ ±s	P值	$x ¯$ ±s	P值	$x ¯$ ±s	P值
对照组（n=254）	300.17±17.06	-	87.93±10.38	-	4.32±0.51	-	16.29±3.14	-
地贫组（n=64）	303.31±10.36	0.224	77.19±8.89	＜0.001	5.03±0.62	＜0.001	15.33±1.16	0.235
α-型地贫组^{* #}（n=53）	302.79±10.91	-	78.26±8.18	＜0.001	4.96±0.62	＜0.001	15.23±1.14	-
β-型地贫组^#（n=10）	305.20±6.97	-	72.23±11.28	＜0.001	5.40±0.52	＜0.001	15.90±1.20	-

项目	HbA/%		HbA2/%		HbF/%		Hb/g/L		MCH/pg
项目	$x ¯$ ±s	P值	$x ¯$ ±s	P值	$x ¯$ ±s	P值	$x ¯$ ±s	P值	$x ¯$ ±s	P值
对照组（n=254）	97.64±2.92	-	2.02±0.32	-	0.12±0.46	-	115.67±18.66	-	26.49±4.06	-
地贫组（n=64）	96.42±3.72	＜0.001	2.66±1.17	＜0.001	0.44±1.38	＜0.001	117.52±11.10	0.752	23.39±2.66	＜0.001
α-型地贫组^{* #}（n=53）	97.36±1.32	＜0.001	2.21±0.49	0.013	0.36±1.42	0.35	117.36±11.28	-	23.68±2.48	＜0.001
β-型地贫组^#（n=10）	92.00±7.51	＜0.001	4.70±1.06	＜0.001	0.50±0.53	＜0.001	118.20±11.24	-	22.00±3.37	0.002
项目	MCHC/g/L		MCV/fL		RBC/×10¹²/L		RDW/%
项目	$x ¯$ ±s	P值	$x ¯$ ±s	P值	$x ¯$ ±s	P值	$x ¯$ ±s	P值
对照组（n=254）	300.17±17.06	-	87.93±10.38	-	4.32±0.51	-	16.29±3.14	-
地贫组（n=64）	303.31±10.36	0.224	77.19±8.89	＜0.001	5.03±0.62	＜0.001	15.33±1.16	0.235
α-型地贫组^{* #}（n=53）	302.79±10.91	-	78.26±8.18	＜0.001	4.96±0.62	＜0.001	15.23±1.14	-
β-型地贫组^#（n=10）	305.20±6.97	-	72.23±11.28	＜0.001	5.40±0.52	＜0.001	15.90±1.20	-

分组	例数/例	镜检HbH包涵体				电泳异常条带
分组	例数/例	无异常	包涵体	χ²值	P值	无异常	异常条带	χ²值	P值
对照组	254	238（93.7）	16（6.3）	69.048	＜0.001	253（99.6）	1（0.4）	13.123	0.007
地贫组	64	34（53.1）^a	30（46.9）^a			60（93.8）^a	4（6.2）^a
α-型地贫组^#	53	23（43.4）^a	30（56.6）^a			50（94.3）^a	3（5.7）^a
β-型地贫组	10	10（100.0）	0（0.0）			9（90.0）^a	1（10.0）^a
α/β复合型地贫组^*	1	1（100.0）	0（0.0）			1（100.0）	0（0.0）

References 31

1	KATTAMIS A, KWIATKOWSKI J L, AYDINOK Y. Thalassaemia[J]. Lancet, 2022, 399(10343): 2310-2324.
2	PIEL F B, WEATHERALL D J. The α-thalassemias[J]. The New England journal of medicine, 2014, 371(20): 1908-1916.
3	WANG W D, HU F, ZHOU D H, et al. Thalassaemia in China[J]. Blood reviews, 2023, 60: 101074.
4	CHAUHAN W, SHOAIB S, FATMA R, et al. Beta-thalassemia and the advent of new interventions beyond transfusion and iron chelation[J]. British journal of clinical pharmacology, 2022, 88(8): 3610-3626.
5	ZHAO S, XIANG J, FAN C, et al. Pilot study of expanded carrier screening for 11 recessive diseases in china: Results from 10, 476 ethnically diverse couples[J]. European journal of human genetics, 2019, 27(2): 254-262.
6	XIAN J, WANG Y, HE J, et al. Molecular epidemiology and hematologic characterization of thalassemia in Guangdong Province, Southern China[J]. Clinical and applied thrombosis/ hemostasis: Official journal of the international academy of clinical and applied thrombosis/ hemostasis, 2022, 28: 10760296221119807.
7	YU X, LIN M, LIU C, et al. Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)[J]. Genes & diseases, 2019, 8(2): 224-231.
8	QIAO J, LUO B, MING J, et al. Health-related quality of life and associated factors among children with transfusion-dependent β-thalassaemia: A cross-sectional study in Guangxi Province[J]. Health and quality of life outcomes, 2024, 22(1): 93.
9	XU G, WANG C, WANG J, et al. Prevalence and molecular characterization of common thalassemia among people of reproductive age in the border area of Guangxi-Yunnan-Guizhou Province in Southwestern China[J]. Hematology, 2022, 27(1): 672-683.
10	WANG K, YI T, WU W T, et al. Investigation of the distribution of thalassemia in children in Jiangxi Province, the People's Republic of China[J]. Hemoglobin, 2022, 46(5): 272-276.
11	KMIETOWICZ Z. Thalassaemia: NHS to offer stem cell transplants to adults who need transfusions[J]. British medical journal (Clinical research ed.), 2023, 383: 2837.
12	CAO A, GALANELLO R. Beta-thalassemia[J]. Genetics in medicine: Official journal of the American college of medical genetics, 2010, 12(2): 61-76.
13	GAZIEV J, SODANI P, POLCHI P, et al. Bone marrow transplantation in adults with thalassemia: Treatment and long-term follow-up[J]. Annals of the New York academy of sciences, 2005, 1054: 196-205.
14	魏燕, 卿吉琳, 赵艺莲, 等. 测序技术在地中海贫血诊断中的研究进展[J]. 临床血液学杂志, 2025, 38(6): 490-496.
15	ZHANG J, ZHANG W, ZHANG H, et al. High efficiency of thalassemia prevention by next-generation sequencing: A real-world cohort study in two centers of China[J]. Journal of genetics and genomics, 2025, 25(5:S1673-8527): 127-134.
16	周春欢, 邹文兵, 曹政媛. 贵阳地区9334例样本的地中海贫血基因筛查结果分析[J]. 中国实验血液学杂志, 2025, 33(2): 486-490.
17	VIPRAKASIT V, EKWATTANAKIT S. Clinical classification, screening and diagnosis for thalassemia[J]. Hematology oncology clinics of North America, 2018, 32(2): 193-211.
18	COLAH R B, SETH T. Thalassemia in India[J]. Hemoglobin, 2022, 46(1): 20-26.
19	WEIL L G, CHARLTON M R, COPPINGER C, et al. Sickle cell disease and thalassaemia antenatal screening programme in England over 10 years: A review from 2007/2008 to 2016/2017[J]. Journal of clinical pathology, 2020, 73(4): 183-190.
20	SAHA S, SHARMA P, JAIN A K, et al. Detection of β-thalassemia trait from a heterogeneous population with red cell indices and parameters[J]. Computers in biology and medicine, 2025, 192(Pt A): 110151.
21	冯杏琳, 宋雅倩, 邵慧娟, 等. 正常人群中单基因病扩展性携带者筛查临床研究及干预[J]. 中国优生与遗传杂志, 2025, 33(3): 615-619.
22	BRANCALEONI V, DI PIERRO E, MOTTA I, et al. Laboratory diagnosis of thalassemia[J]. International journal of laboratory hematology, 2016, 38 Suppl 1: 32-40.
23	LI B, HAN X, MA J, et al. Mutation spectrum and erythrocyte indices characterisation of α-thalassaemia and β-thalassaemia in Sichuan women in China: A thalassaemia screening survey of 42 155 women[J]. Journal of clinical pathology, 2021, 74(3): 182-186.
24	HUANG H, CHEN M, CHEN L, et al. Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: A 10-year follow-up study[J]. Journal of clinical laboratory analysis, 2021, 35(10): e23982.
25	陈冬, 李萍, 葛艳芬, 等. 异常HbK复合 β 地中海贫血家系及其风险胎儿的产前诊断[J]. 南方医科大学学报, 2009, 29(11): 2343-2344.
26	庄倩梅, 刘小龙, 黄海龙, 等. 4种地中海贫血筛查模式的应用效果比较[J]. 检验医学, 2021, 36(2): 173-176.
27	THEIN S L. Molecular basis of β thalassemia and potential therapeutic targets[J]. Blood cells, molecules and diseases, 2018, 70: 54-65.
28	徐湘民. 地中海贫血预防控制操作指南[M]. 北京：人民军医出版社, 2011: 61-80.
29	WANG X, HUANG H, ZHAO Y, et al. Molecular spectrum of α- and β-thalassemia among individuals of reproductive age in the Zhuhai region of southern China[J]. International journal of laboratory hematology, 2023, 45(4): 571-580.
30	HUANG R, LIU Y, XU J, et al. Back-to-back comparison of third-generation sequencing and next-generation sequencing in carrier screening of thalassemia[J]. Archives of pathology & laboratory medicine, 2024, 148(7): 797-804.
31	CHEN X, LUO S, HUANG J, et al. Diagnosis and prenatal diagnosis in a Chinese family carrying the rare α-thalassemia gene Hba2: C.1a＞g mutation[J]. Hemoglobin, 2020, 44(1): 51-54.

[1]	Lifang Wang, Pingshan Pan, Dahua Meng, Li Lin, Yangjin Zuo, Xiaoxia Qiu. Prenatal diagnosis of 440 fetuses with hemoglobin H disease in Guangxi area [J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2021, 17(01): 75-80.
[2]	Yi Wei, Qiang Ye, Qiang Zhong, Qin Hu. Diagnosis of fetal β-Thalassemia by noninvasive prenatal testing combined with serum soluble transferrin receptor, growth differentiation factor-15 and red blood cell volume distribution width coefficient of variation of pregnant women [J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2019, 15(06): 708-715.
[3]	Zan Li, Zhibin Xu, Zhijin Feng, Xiong Zhang. Dynamic analysis of lymphocyte subsets in children with severe β-thalassemia after allogeneic hematopoietic stem cell transplantation [J]. Chinese Journal of Transplantation(Electronic Edition), 2024, 18(01): 22-29.
[4]	Juntao Li, Guihua Liu, Ziqin He, Menghui Ma, Yangjie Zhao, Chutian Xiao, Yifei Zhang, Lubin Yan, Xiaoyan Liang, Dejuan Wang. Application of unilateral partial orchiectomy for fertility preservation in prepubertal boys [J]. Chinese Journal of Endourology(Electronic Edition), 2025, 19(06): 759-764.
[5]	Lan Chen, Yan Shen, Ke Jin, Ping Shi, Luqian Deng, Liping Shi. Clinical significance of hematological features after intensive treatment of pulmonary tuberculosis [J]. Chinese Journal of Lung Diseases(Electronic Edition), 2024, 17(06): 913-919.
[6]	Binyang Zhao, Jun Wu, Huijuan Wang, Xin Zhang, Yuying Sha, Lin Chen, Zhuyan Duan. Thalassemia misdiagnosed as iron deficiency anemia: analysis of four cases [J]. Chinese Journal of Clinicians(Electronic Edition), 2023, 17(11): 1206-1208.
[7]	Xiaoli Wang, Yingying Liu, Shaohua Lin, Ying Fan. Clinical analysis of six cases of pregnant women with mild thalassemia in Beijing [J]. Chinese Journal of Clinicians(Electronic Edition), 2023, 17(02): 227-231.
[8]	Xiaodan Chen, Hongying Hou. Screen and diagnosis of thalassemia [J]. Chinese Journal of Obstetric Emergency(Electronic Edition), 2022, 11(04): 208-212.
[9]	Yizhi Qin, Yangyang Zhang, Dinghua Liu. A case report of β-thalassemia [J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2024, 12(03): 187-191.
[10]	Dan Zhang, Xinsheng Yan, Litao Zhang, Zhenlu Zhang, Dong Wang. Using quality tools to reduce the review rate of thalassemia genetic test [J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2023, 11(02): 79-83.
[11]	Xiuli Liu, Qianwen Liang, Yi Luan, Chuanjiang He, Huiling Hu, Chaohui Duan. The application value of combined screening of RDW, MCV and MCH in distinguishing iron deficiency anemia and thalassemia carriers [J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2022, 10(04): 199-203.
[12]	Yuncong Zhang, Wenqing Huang, Junjie Wei, Tianzi Guo, Shiqiao Zhou. Application of capillary ultra-centrifugation in identification of Rh blood group in thalassemia patients [J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2020, 08(04): 237-240.
[13]	Yanan Luo, Hongya Shao, Fupeng Liu, Mei Zhang, Bo Ban, Yanying Li. A case of growth hormone deficiency combined with thalassemia treated with growth hormone and letrozole [J]. Chinese Journal of Diagnostics(Electronic Edition), 2025, 13(01): 45-50.
[14]	Aiping Ju, Yanxia Liu, Keng Lin, Xiangrong Meng, Xichong Li, Guoxiang Wei, Shuxian Liu. Genotypes and hematological characteristics of population with αβ-thalassemia in the northern of Guangzhou [J]. Chinese Journal of Diagnostics(Electronic Edition), 2020, 08(02): 121-125.
[15]	Aiping Ju, Keng Lin, Xiangrong Meng, Yanling Qin. Study on gene mutation of reproductive age population with Beta-thalassemia in Huadu district of Guangzhou [J]. Chinese Journal of Diagnostics(Electronic Edition), 2019, 07(03): 188-192.

Please choose a citation manager

Content to export