Prenatal diagnosis and management of fetal anemia caused by hemoglobin H-Adana: A case report

IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY
Sirinart Sirilert, Kasemsri Srisupundit, Pimlak Charoenkwan, Arunee Phusua, Theera Tongsong
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Abstract

Hemoglobin (Hb) Adana, the alpha-globin gene mutation at codon 59 (GGC → GAC), is very rare globally but occasionally encountered in Southeast Asia. Its combination with alpha0-thalassemia (–SEA) results in Hb H-Adana, which can lead to severe fetal anemia. This report describes a 22-year-old woman at 33 weeks, presenting with fetal cardiomegaly with early hydropic changes and anemia (middle cerebral artery peak systolic velocity: 1.75 multiple of median [MoM]). Cordocentesis revealed a Hb level of 4.3 g/dL, and intrauterine transfusion (IUT) was performed. However, non-reassuring fetal heart rate developed after IUT and cesarean section was performed. A preterm live male infant was delivered, weighing 1455 g, and was confirmed to be Hb H-Adana. Post-natal life was transfusion-dependent. In conclusion, this case focuses on prenatal features of fetal Hb H-Adana, which caused fetal anemia and hydrops fetalis in the third trimester. In cases of unexplained fetal anemia, Hb H-Adana should be listed in the differential diagnoses, especially in areas of high prevalence.

血红蛋白H-Adana致胎儿贫血的产前诊断与处理1例
血红蛋白(Hb) Adana是一种位于密码子59 (GGC→GAC)的α -珠蛋白基因突变,在全球范围内非常罕见,但在东南亚地区偶尔会遇到。它与α - 0-地中海贫血(-SEA)联合导致Hb H-Adana,可导致严重的胎儿贫血。本报告描述了一名22岁的妇女在33周时,表现为胎儿心脏肿大,早期水肿改变和贫血(大脑中动脉收缩峰值速度:1.75倍中位数[MoM])。Cordocentesis显示Hb水平为4.3 g/dL,并进行宫内输血(IUT)。然而,在宫内节育术和剖宫产后,胎儿心率出现不稳定。早产活男婴1例,体重1455 g,确诊为Hb H-Adana。产后生活依赖输血。总之,本病例的重点是胎儿Hb H-Adana的产前特征,导致胎儿贫血和妊娠晚期水肿。在不明原因的胎儿贫血病例中,Hb H-Adana应列入鉴别诊断,特别是在高患病率地区。
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来源期刊
CiteScore
3.10
自引率
0.00%
发文量
376
审稿时长
3-6 weeks
期刊介绍: The Journal of Obstetrics and Gynaecology Research is the official Journal of the Asia and Oceania Federation of Obstetrics and Gynecology and of the Japan Society of Obstetrics and Gynecology, and aims to provide a medium for the publication of articles in the fields of obstetrics and gynecology. The Journal publishes original research articles, case reports, review articles and letters to the editor. The Journal will give publication priority to original research articles over case reports. Accepted papers become the exclusive licence of the Journal. Manuscripts are peer reviewed by at least two referees and/or Associate Editors expert in the field of the submitted paper.
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