Obstetric Management of Pregnancy Complicated with Thalassemia

doi:10.12280/gjfckx.20211170

Abstract

Abstract:

Pregnancy with thalassemia is a single-genome inherited hemolytic disease occurring during pregnancy. Due to the imbalance in the composition of hemoglobin in the blood, the blood system of pregnant patients has changed, which may affect the maternal heart function, increase the risk of thrombosis, damage the immune system, and disrupt endocrine system. Previous studies have focused on the epidemiology and pathogenesis of pregnancy-associated thalassemia, but lacked systematic elaboration on pregnancy management, genetic counseling and prenatal diagnosis of complications. This study started from the types of lesions and pathogenesis, and deeply analyzes the unique complications of thalassemia during pregnancy and the corresponding treatment methods, in order to achieve better pregnancy outcomes and perinatal outcomes.

Key words: Pregnant women, Thalassemia, Alpha-thalassemia, Beta-thalassemia, Genetic counseling, Prenatal diagnosis

LI Yang, YANG Hai-lan. Obstetric Management of Pregnancy Complicated with Thalassemia[J]. Journal of International Obstetrics and Gynecology, 2022, 49(3): 330-334.

Figures/Tables 1

References 29

[1]	罗丽丽, 王莹, 肖琳, 等. 妊娠合并地中海贫血的研究进展[J]. 中国优生与遗传杂志, 2017, 25(11):4-6,9.
[2]	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.
[3]	Lao TT. Obstetric care for women with thalassemia[J]. Best Pract Res Clin Obstet Gynaecol, 2017, 39:89-100. doi: 10.1016/j.bpobgyn.2016.09.002. doi: 10.1016/j.bpobgyn.2016.09.002
[4]	邢璐, 余海燕. 双胎之一合并重型β-地中海贫血的选择性终止妊娠1例[J]. 实用妇产科杂志, 2019, 35(1):77-78.
[5]	刘瑞, 朱娜, 雒猛, 等. 山东地区新生儿地中海贫血筛查及基因检测结果分析[J]. 中国临床医学, 2020, 27(6):1043-1045. doi: 10.12025/j.issn.1008-6358.2020.20201075. doi: 10.12025/j.issn.1008-6358.2020.20201075
[6]	杨玉静, 葛艳芬, 侯铁英, 等. 毛细管血红蛋白电泳在新生儿β-地中海贫血筛查中的应用价值[J]. 中国妇幼保健, 2019, 34(9):2063-2066. doi: 10.7620/zgfybj.j.issn.1001-4411.2019.09.40. doi: 10.7620/zgfybj.j.issn.1001-4411.2019.09.40
[7]	杨花梅, 孙菲, 马燕琳, 等. β-地中海贫血治疗的研究进展[J]. 实用医学杂志, 2021, 37(6):816-820. doi: 10.3969/j.issn.1006-5725.2021.06.026. doi: 10.3969/j.issn.1006-5725. 2021.06.026
[8]	Yang X, Zhu X, Tang X, et al. Astragalus polysaccharides meliorate cardiovascular dysfunction in iron-overloaded thalassemic mice[J]. Exp Biol Med (Maywood), 2019, 244(14):1202-1209. doi: 10.1177/1535370219876540. doi: 10.1177/1535370219876540
[9]	Petrakos G, Andriopoulos P, Tsironi M. Pregnancy in women with thalassemia: challenges and solutions[J]. Int J Womens Health, 2016, 8:441-451. doi: 10.2147/IJWH.S89308. doi: 10.2147/IJWH.S89308 pmid: 27660493
[10]	Lidén M, Adrian D, Widell J, et al. Quantitative T2* imaging of iron overload in a non-dedicated center - Normal variation, repeatability and reader variation[J]. Eur J Radiol Open, 2021, 8:100357. doi: 10.1016/j.ejro.2021.100357. doi: 10.1016/j.ejro.2021.100357
[11]	Collins A, Memtsa M, Kirk E, et al. The risk of venous thromboembolism in early pregnancy loss: Review of the literature and current guidelines and the need for guidance - Communication from the SSC on Women′s Health Issues for thrombosis and haemostasis[J]. J Thromb Haemost, 2022, 20(3):767-776. doi: 10.1111/jth.15621. doi: 10.1111/jth.15621
[12]	Labib HA, Etewa RL, Atia H. The hypercoagulable status in common Mediterranean β-thalassaemia mutations trait[J]. Int J Lab Hematol, 2015, 37(3):326-333. doi: 10.1111/ijlh.12289. doi: 10.1111/ijlh.12289 pmid: 25179546
[13]	Choi YJ, Shin S. Aspirin Prophylaxis During Pregnancy: A Systematic Review and Meta-Analysis[J]. Am J Prev Med, 2021, 61(1):e31-e45. doi: 10.1016/j.amepre.2021.01.032. doi: 10.1016/j.amepre.2021.01.032
[14]	Vento S, Cainelli F, Cesario F. Infections and thalassaemia[J]. Lancet Infect Dis, 2006, 6(4):226-233. doi: 10.1016/S1473-3099(06)70437-6. doi: 10.1016/S1473-3099(06)70437-6
[15]	Milic S, Mikolasevic I, Orlic L, et al. The Role of Iron and Iron Overload in Chronic Liver Disease[J]. Med Sci Monit, 2016, 22:2144-2151. doi: 10.12659/msm.896494. doi: 10.12659/msm.896494
[16]	Mehta KJ, Farnaud SJ, Sharp PA. Iron and liver fibrosis: Mechanistic and clinical aspects[J]. World J Gastroenterol, 2019, 25(5):521-538. doi: 10.3748/wjg.v25.i5.521. doi: 10.3748/wjg.v25.i5.521
[17]	Paisant A, d′Assignies G, Bannier E, et al. MRI for the measurement of liver iron content, and for the diagnosis and follow-up of iron overload disorders[J]. Presse Med, 2017, 46(12 Pt 2):e279-e287. doi: 10.1016/j.lpm.2017.10.008. doi: 10.1016/j.lpm.2017.10.008
[18]	He LN, Chen W, Yang Y, et al. Elevated Prevalence of Abnormal Glucose Metabolism and Other Endocrine Disorders in Patients with β-Thalassemia Major: A Meta-Analysis[J]. Biomed Res Int, 2019, 2019:6573497. doi: 10.1155/2019/6573497. doi: 10.1155/2019/6573497
[19]	关茜文. 糖化血红蛋白及果糖胺水平变化与妊娠期糖尿病的关系[J]. 中国医药指南, 2021, 19(21):46-47.
[20]	Petrakos G, Andriopoulos P, Tsironi M. Pregnancy in women with thalassemia: challenges and solutions[J]. Int J Womens Health, 2016, 8:441-451. doi: 10.2147/IJWH.S89308. doi: 10.2147/IJWH.S89308 pmid: 27660493
[21]	杨敏, 李彩云, 雷冬竹, 等. 高通量测序技术在湖南省郴州市苏仙、北湖两区11212例孕妇地中海贫血基因筛查中的应用[J]. 中国实验血液学杂志, 2021, 29(1):188-192. doi: 10.19746/j.cnki.issn1009-2137.2021.01.029. doi: 10.19746/j.cnki.issn1009-2137.2021.01.029
[22]	何天文, 卢建, 陈创奇, 等. 采用二代测序对α/β复合型地中海贫血夫妇进行胚胎植入前遗传学诊断[J]. 中国实验血液学杂志, 2021, 29(4):1275-1279. doi: 10.19746/j.cnki.issn1009-2137.2021.04.041. doi: 10.19746/j.cnki.issn1009-2137.2021.04.041
[23]	阳彦, 刘艳秋, 陆清, 等. 基于高通量测序的单体型分析在地中海贫血-HLA配型的植入前遗传学诊断中的应用[J]. 中华医学遗传学杂志, 2019, 36(11):1090-1093. doi: 10.3760/cma.j.issn.1003-9406.2019.11.008. doi: 10.3760/cma.j.issn.1003-9406.2019.11.008
[24]	Hudecova I, Chiu RW. Non-invasive prenatal diagnosis of thalassemias using maternal plasma cell free DNA[J]. Best Pract Res Clin Obstet Gynaecol, 2017, 39:63-73. doi: 10.1016/j.bpobgyn.2016.10.016. doi: S1521-6934(16)30124-9 pmid: 27887921
[25]	Xiong L, Barrett AN, Hua R, et al. Non-invasive prenatal testing for fetal inheritance of maternal β-thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study[J]. BJOG, 2018, 125(4):461-468. doi: 10.1111/1471-0528.15045. doi: 10.1111/1471-0528.15045
[26]	Sorrentino F, Maffei L, Caprari P, et al. Pregnancy in Thalassemia and Sickle Cell Disease: The Experience of an Italian Thalassemia Center[J]. Front Mol Biosci, 2020, 7:16. doi: 10.3389/fmolb.2020.00016. doi: 10.3389/fmolb.2020.00016 pmid: 32118041
[27]	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. doi: 10.3760/cma.j.cn113903-20200401-00293. doi: 10.3760/cma.j.cn113903-20200401-00293
[28]	Ibba RM, Zoppi MA, Floris M, et al. Neural tube defects in the offspring of thalassemia carriers[J]. Fetal Diagn Ther, 2003, 18(1):5-7. doi: 10.1159/000066375. doi: 10.1159/000066375
[29]	Royal College of Obstetricians and Gynaecologists.Reducing the Risk of Thrombosis and Embolism during Pregnancy and the Puerperium[R]. London:RCOG, 2015.

类型	珠蛋白表型	是否输血	症状
轻型	β⁰/β或β^-/β	不需输血	临床无明显症状,多在体检时发现。
中间型	β^-/β^-或β⁰/β^- β⁰/β⁰合并α-地中海贫血基因突变 β⁰/β^-合并α-三联体或四联体 β⁰/β^-合并δβ-地中海贫血	一般不需输血	临床表现比重型地中海贫血轻。患者的贫血、黄疸程度因人而异,脾脏轻至中度变大,偶有轻度的骨骼生长改变,生长发育迟缓,性发育较同龄人迟,但性功能仍可发育至正常水平。
重型	β⁰/β⁰、β^-/β^-、β^-/β⁰	需要靠输血维持	出生时正常,一段时间后发生重度贫血,黄疸,肝脾增大。发育迟缓、矮小、肌张力异常。因骨质疏松、骨骼形态畸形及骨髓长期代偿性增生,易发生骨折。头骨发育异常,眼距较常人较宽。

类型	珠蛋白表型	是否输血	症状
轻型	β⁰/β或β^-/β	不需输血	临床无明显症状,多在体检时发现。
中间型	β^-/β^-或β⁰/β^- β⁰/β⁰合并α-地中海贫血基因突变 β⁰/β^-合并α-三联体或四联体 β⁰/β^-合并δβ-地中海贫血	一般不需输血	临床表现比重型地中海贫血轻。患者的贫血、黄疸程度因人而异,脾脏轻至中度变大,偶有轻度的骨骼生长改变,生长发育迟缓,性发育较同龄人迟,但性功能仍可发育至正常水平。
重型	β⁰/β⁰、β^-/β^-、β^-/β⁰	需要靠输血维持	出生时正常,一段时间后发生重度贫血,黄疸,肝脾增大。发育迟缓、矮小、肌张力异常。因骨质疏松、骨骼形态畸形及骨髓长期代偿性增生,易发生骨折。头骨发育异常,眼距较常人较宽。