Singha Kritsada, Yamsri Supawadee, Chaibunruang Attawut, Srivorakun Hataichanok, Pansuwan Anupong, Sanchaisuriya Kanokwan, Fucharoen Goonnapa, Fucharoen Supan
Faculty of Associated Medical Sciences, Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand.
Faculty of Medicine, Biomedical Science Research Unit, Mahasarakham University, Mahasarakham, Thailand.
Diagnosis (Berl). 2025 Jan 30;12(3):441-451. doi: 10.1515/dx-2024-0190. eCollection 2025 Aug 1.
This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.
A total of 371 fetal blood specimens were recruited. Complete blood count and hemoglobin (Hb) analysis using capillary electrophoresis were performed. Genotypes were defined by DNA analysis.
Among 371 fetuses, 36 were non-thalassemic and 29 thalassemia genotypes were identified in the remaining 335 fetuses. Fetuses with β-thalassemia and Hb E traits, homozygous Hb E, and Hb E-β-thalassemia had similar hematological parameters as those of non-thalassemic. However, the levels of Hb A in β-thalassemia and Hb E traits were approximately half of that observed in the non-thalassemic fetuses. As for Hb E, fetuses with a single copy of the β-globin gene in the Hb E trait and Hb E-β-thalassemia had lower Hb E levels as compared to that of the homozygous Hb E. For α-thalassemia, fetuses with one or two α-globin gene defects had small changes in hematological parameters, but variable Hb Bart's levels were observed. Fetuses with Hb H and Hb H-CS diseases had moderate anemia, whereas those with homozygous Hb CS and Hb Bart's hydrops fetalis had severe anemia. Identification of the fetuses with Hb Bart's hydrops fetalis with various genetic interactions allows the exact re-location of electrophoretic mobilities of various embryonic Hbs.
This study confirmed the genetic heterogeneity of hemoglobinopathies among the fetuses and fetal blood analysis are useful for presumptive diagnosis of hemoglobinopathies. The results should facilitate a prevention and control program of hemoglobinopathies in the region.
本研究报告了一大群胎儿血液中各种血红蛋白病的分析情况。
共收集了371份胎儿血液标本。进行了全血细胞计数和使用毛细管电泳的血红蛋白（Hb）分析。通过DNA分析确定基因型。
在371例胎儿中，36例为非地中海贫血，其余335例胎儿中鉴定出29种地中海贫血基因型。患有β地中海贫血和Hb E性状、纯合Hb E以及Hb E-β地中海贫血的胎儿，其血液学参数与非地中海贫血胎儿相似。然而，β地中海贫血和Hb E性状胎儿的Hb A水平约为非地中海贫血胎儿的一半。至于Hb E，Hb E性状和Hb E-β地中海贫血中具有单个β珠蛋白基因拷贝的胎儿，其Hb E水平低于纯合Hb E胎儿。对于α地中海贫血，具有一个或两个α珠蛋白基因缺陷的胎儿血液学参数变化较小，但观察到Hb Bart水平存在差异。患有Hb H和Hb H-CS疾病的胎儿有中度贫血，而患有纯合Hb CS和Hb Bart水肿胎儿综合征的胎儿有严重贫血。鉴定具有不同遗传相互作用的Hb Bart水肿胎儿综合征胎儿，可准确重新定位各种胚胎血红蛋白的电泳迁移率。
本研究证实了胎儿中血红蛋白病的遗传异质性，胎儿血液分析有助于血红蛋白病的初步诊断。这些结果应有助于该地区血红蛋白病的防控计划。
