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妊娠与β-地中海贫血:意大利多中心经验。

Pregnancy and beta-thalassemia: an Italian multicenter experience.

机构信息

Ospedale Regionale Microcitemie, ASL Cagliari, Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Via Jenner s/n, 09121 Cagliari, Italy.

出版信息

Haematologica. 2010 Mar;95(3):376-81. doi: 10.3324/haematol.2009.012393. Epub 2009 Nov 10.

Abstract

BACKGROUND

Recent advances in the management of thalassemia have significantly improved life expectancy and quality of life of patients with this hemoglobinopathy, with a consequent increase in their reproductive potential and desire to have children.

DESIGN AND METHODS

We describe the methods of conception and delivery, as well as the course and outcome of pregnancy including transfusions, iron overload and chelation in 46 women with thalassemia major (58 pregnancies) and in 11 women with thalassemia intermedia (17 pregnancies). Conception was achieved after gonadotrophin-induced ovulation in 33 of the women with thalassemia major and spontaneously in all of those with thalassemia intermedia.

RESULTS

Among the women with thalassemia major, 91% of the pregnancies resulted in successful delivery of 45 singleton live-born neonates, five sets of twins and one set of triplets. No secondary complications of iron overload developed or worsened during pregnancy. When considering only the singleton pregnancies, the proportion of babies with intrauterine growth retardation did not differ from that reported in the general Italian population. The high prevalence of pre-term births (32.7%) was mostly related to multiple pregnancies and precautionary reasons. Pregnancy was safe in most women with thalassemia major or intermedia. However, women with thalassemia intermedia who had never previously been transfused or who had received only minimal transfusion therapy were at risk of severe alloimmune anemia if blood transfusions were required during pregnancy.

CONCLUSIONS

Provided that a multidisciplinary team is available, pregnancy is possible, safe and usually has a favorable outcome in patients with thalassemia. In women with hypogonadotropic hypogonadism, gonadal function is usually intact and fertility is usually retrievable.

摘要

背景

近年来,地中海贫血症的治疗方法取得了显著进展,这使得患者的预期寿命和生活质量得到了显著提高,相应地也增加了他们的生殖潜能和生育愿望。

方法和设计

我们描述了 46 例重型地中海贫血症(58 例妊娠)和 11 例中间型地中海贫血症(17 例妊娠)患者的受孕和分娩方法,以及妊娠过程和结局,包括输血、铁过载和螯合。在 33 例重型地中海贫血症患者中,通过促性腺激素诱导排卵实现了受孕,而所有中间型地中海贫血症患者均自然受孕。

结果

在重型地中海贫血症患者中,91%的妊娠成功分娩了 45 例单胎活产新生儿、5 对双胞胎和 1 例三胞胎。没有发生或加重铁过载的继发性并发症。仅考虑单胎妊娠时,宫内生长迟缓婴儿的比例与意大利普通人群的报告没有差异。早产率高(32.7%)主要与多胎妊娠和预防措施有关。大多数重型或中间型地中海贫血症患者的妊娠是安全的。然而,从未接受过输血或仅接受过最低限度输血治疗的中间型地中海贫血症患者,如果在妊娠期间需要输血,则存在严重同种免疫性贫血的风险。

结论

只要有一个多学科团队,妊娠是可能的、安全的,并且通常在地中海贫血症患者中会有良好的结局。在促性腺激素缺乏性性腺功能减退症患者中,性腺功能通常正常,生育能力通常可恢复。

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