妊娠合并地中海贫血的产科管理

doi:10.12280/gjfckx.20211170

摘要/Abstract

摘要：

妊娠合并地中海贫血（thalassemia）是一种发生在妊娠期的单基因组遗传的溶血性疾病。由于血液中血红蛋白的组成比例失衡,妊娠合并地中海贫血患者血液系统发生了改变,可能会影响母体的心脏功能,增加血栓形成风险,损害免疫系统,使内分泌系统紊乱等。以往研究关注妊娠合并地中海贫血的流行病学及发病机制,缺乏对其所带来的并发症的妊娠期管理、遗传咨询及产前诊断的系统性阐述。从病变类型和发病机制入手,深度剖析地中海贫血在妊娠期的特有并发症及相应的处理方式,以期能取得更好的妊娠结局及围生儿结局。

关键词: 孕妇, 地中海贫血, α地中海贫血, β地中海贫血, 遗传咨询, 产前诊断

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

李洋, 杨海澜. 妊娠合并地中海贫血的产科管理[J]. 国际妇产科学杂志, 2022, 49(3): 330-334.

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

图/表 1

参考文献 29

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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。