Screen and diagnosis of thalassemia

doi:10.3877/cma.j.issn.2095-3259.2022.04.004

Abstract

Abstract:

Thalassemia is a hereditary hemolytic anemia caused by mutations or deletions in the globin gene. Women with thalassemia are at increased risk of adverse pregnancy outcomes associated with anemia. How to effectively screen and diagnose thalassemia play a key role in the management of thalassemia and has been widely studied nowadays. Based on clinical guidelines, literature research and practical experience in recent years, this paper discusses the screening strategies and diagnosis of thalassemia.

Key words: Thalassemia, Prenatal diagnosis, Diagnosis, Pregnancy

Xiaodan Chen, Hongying Hou. Screen and diagnosis of thalassemia[J]. Chinese Journal of Obstetric Emergency(Electronic Edition), 2022, 11(04): 208-212.

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhckjjdzzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.2095-3259.2022.04.004

https://zhckjjdzzz.cma-cmc.com.cn/EN/Y2022/V11/I04/208

References 28

[1]	北京天使妈妈慈善基金会，中华思源工程扶贫基金会，北京师范大学中国公益研究院. 中国地中海贫血蓝皮书[M]. 1版．北京：中国社会出版社，2016:1-11.
[2]	Li B, Zhang XZ, Yin AH, et al. High prevalence of thalassemia in migrant populations in Guangdong Province, China [J]. BMC Public Health，2014,14:1-8.
[3]	Farashi S, Harteveld CL. Molecular basis of α-thalassemia[J]. Blood Cells Mol Dis，2018,70:43-53.
[4]	Lee JS, Cho SI, Park SS，et al. Molecular basis and diagnosis of thalassemia [J]. Blood Res，2021,56(S1):S39-S43.
[5]	Thein SL. Molecular basis of β thalassemia and potential therapeutic targets [J]. Blood Cells Mol Dis，2018,70:54-65.
[6]	中华医学会围产医学分会，中华医学会妇产科学分会产科学组. 地中海贫血妊娠期管理专家共识 [J]. 中华围产医学杂志，2020,23(9): 577-584.
[7]	Shang X, Xu X. Update in the genetics of thalassemia: What clinicians need to know [J]. Best Pract Res Clin Obstet Gynaecol，2017,39: 3-15.
[8]	Viprakasit V, Ekwattanakit S. Clinical Classification, Screening and Diagnosis for Thalassemia [J]. Hematol Oncol Clin North Am，2018,32(2):193-211.
[9]	Gao J, Liu W. Advances in screening of thalassaemia [J]. Clin Chim Acta，2022,534:176-184.
[10]	Singha K, Taweenan W, Fucharoen G，et al. Erythrocyte indices in a large cohort of β-thalassemia carrier: Implication for population screening in an area with high prevalence and heterogeneity of thalassemia [J]. Int J Lab Hematol，2019,41(4):513-518.
[11]	Gu H, Wang YX, Du MX, et al. Effectiveness of Using Mean Corpuscular Volume and Mean Corpuscular Hemoglobin for Beta-thalassemia Carrier Screening in the Guangdong Population of China [J]. Biomed Environ Sci，2021,34(8): 667-671.
[12]	Husna N, Handayani NSN. Molecular and Haematological Characteristics of alpha-Thalassemia Deletions in Yogyakarta Special Region, Indonesia [J]. Rep Biochem Mol Biol，2021,10(3): 346-353.
[13]	何文，王晓东，余海燕. 妊娠合并地中海贫血研究现状 [J/CD]. 中华妇幼临床医学杂志(电子版)，2017,13(1):14-19.
[14]	Dasauni P, Chhabra V, Kumar G, et al. Advances in mass spectrometric methods for detection of hemoglobin disorders [J]. Anal Biochem，2021,629:1-12.
[15]	Xu A, Chen W, Xie W, et al. Identification of a new hemoglobin variant Hb Liuzhou [HBA1：C.182A→G] by MALDI-TOF mass spectrometry during HbA1c measurement [J]. Scand J Clin Lab Invest，2020,80(6): 479-483.
[16]	He J, Song W, Yang J, et al. Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China [J]. Genet Med，2017,19(9):1022-1031.
[17]	潘丽，苏文，陈咏梅，等. 高通量测序技术在珠海地区产前地贫筛查中的应用 [J]. 中华医学遗传学杂志，2022,39(8):824-828.
[18]	中华医学会医学遗传学分会遗传病临床实践指南撰写组. α-地中海贫血的临床实践指南 [J]. 中华医学遗传学杂志，2020,37(3): 235-242.
[19]	中华医学会医学遗传学分会遗传病临床实践指南撰写组. β-地中海贫血的临床实践指南 [J]. 中华医学遗传学杂志，2020,37(3): 243-251.
[20]	潘石蕾，黄郁馨. 妊娠合并地中海贫血 [J]. 中华产科急救电子杂志，2015,4(1):28-31.
[21]	吕荣钰，飞球，陈小文，等. 常规基因检测阴性的地中海贫血疑似病例再行进一步基因检测仍有7%的阳性发现 [J]. 中国循证儿科杂志，2014,9(4):274-277.
[22]	Leung KY, Cheong KB, Lee CP，et al. Ultrasonographic prediction of homozygous alpha0-thalassemia using placental thickness, fetal cardiothoracic ratio and middle cerebral artery Doppler: alone or in combination? [J]. Ultrasound Obstet Gynecol，2010,35(2): 149-154.
[23]	Jatavan P, Chattipakorn N, Tongsong T. Fetal hemoglobin Bart′s hydrops fetalis: pathophysiology, prenatal diagnosis and possibility of intrauterine treatment [J]. J Matern Fetal Neonatal Med，2018,31(7): 946-957.
[24]	贾文广，陈萍. 基于胎儿游离DNA和高通量测序的地中海贫血无创产前检测的研究进展 [J]. 厦门大学学报(自然科学版)，2020,59(2): 231-237.
[25]	Zimmermann MB, Fucharoen S, Winichagoon P，et al. Iron metabolism in heterozygotes for hemoglobin E (HbE), alpha-thalassemia 1, or beta-thalassemia and in compound heterozygotes for HbE/beta-thalassemia [J]. Am J Clin Nutr，2008,88(4):1026-1031.
[26]	向瑛，未欢，孙玲玲，等. 补铁对妊娠晚期轻型地中海贫血合并缺铁治疗效果及安全性分析 [J]. 中国计划生育学杂志，2021,29(7):1352-1355.
[27]	陈年坤，李仲均，黄莺莺，等. 轻型β地中海贫血合并缺铁性贫血与单纯缺铁性贫血孕妇补铁治疗前后铁代谢参数变化的特点[J]. 实用医学杂志，2022,38(3):340-343.
[28]	Pavord S, Daru J, Prasannan N, et al. UK guidelines on the management of iron deficiency in pregnancy[J]. Br J Haematol，2020,188(6): 819-830.

Please choose a citation manager

Content to export