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一例脾切除术后依赖输血的纯合子重型β地中海贫血合并心肌含铁血黄素沉着症和骨质疏松症以及孕期使用去铁酮进行铁螯合治疗的病例。

A case of post-splenectomy transfusion-dependent homozygous beta-thalassemia major complicated with myocardial siderosis and osteoporosis and usage of iron-chelating therapy with deferiprone in pregnancy.

作者信息

Ahmad Mohd Faizal, Zakaria Nur Zawani, Arsad Noorazizah, Chew Kah Teik, Abu Muhammad Azrai, Shafiee Mohd Nasir, Omar Mohd Hashim

机构信息

Obstetrics and Gynecology, National University of Malaysia (UKM), UKMMC, Jalan Yacob Latiff, 56000 Cheras, Kuala Lumpur, Malaysia, Phone: +60122152401.

Obstetrics and Gynecology, National University of Malaysia (UKM), UKMMC, Jalan Yacob Latiff, Kuala Lumpur, Malaysia.

出版信息

Horm Mol Biol Clin Investig. 2019 Jul 13;39(2):/j/hmbci.2019.39.issue-2/hmbci-2019-0005/hmbci-2019-0005.xml. doi: 10.1515/hmbci-2019-0005.

Abstract

Beta-thalassemia major is a subtype component of hemoglobinopathies; autosomal recessive disorders complicated with anemia that affect at least 50,000 babies each year. It contributes to problems in reproductive entities such as infertility due to iron deposition in the endocrine organs, which leads to malfunction of the hypothalamus-pituitary axis. Due to this, there have been very few pregnancies discovered and reported with this type of condition as they usually required an ovulation-induction agent with assisted reproductive technique to achieved pregnancy. We report a successful spontaneous pregnancy in a woman with beta-thalassemia major who underwent splenectomy with lifelong transfusion-dependence complicated with myocardial siderosis and osteoporosis. The close monitoring and regular blood transfusion are a core of successful support to this type of pregnancy. The unintentional consumption of Fosamax, hydroxyurea and deferiprone (Ferriprox) up till 20 weeks of gestation did not show any adverse effects on fetal well-being. As expected, this pregnancy ended with the preterm delivery via cesarean section due to intrauterine growth restriction with oligohydramnios, and currently, this child is thriving. We concluded that pregnancy is not a contraindication in beta-thalassemia major; complex individual care is needed to achieve a safe outcome for the mother.

摘要

重型β地中海贫血是血红蛋白病的一种亚型;它是常染色体隐性疾病,伴有贫血,每年至少影响5万名婴儿。它会导致生殖系统出现问题,比如因内分泌器官中铁沉积而导致不孕,进而引起下丘脑 - 垂体轴功能失调。因此,很少有这种疾病患者怀孕的病例被发现和报道,因为她们通常需要使用促排卵药物并借助辅助生殖技术才能怀孕。我们报告了一例重型β地中海贫血女性成功自然受孕的病例,该女性接受过脾切除术,终生依赖输血,并发心肌铁沉着症和骨质疏松症。密切监测和定期输血是这类妊娠成功维持的核心。在妊娠20周前意外服用了福善美、羟基脲和去铁酮(Ferriprox),但对胎儿健康未显示任何不良影响。不出所料,由于宫内生长受限伴羊水过少,此次妊娠以剖宫产早产告终,目前,这个孩子茁壮成长。我们得出结论,重型β地中海贫血患者怀孕并非禁忌;需要综合个体化护理才能确保母亲安全分娩。

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