A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Practical Laboratory Medicine Pub Date : 2024-10-23 DOI:10.1016/j.plabm.2024.e00438
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Abstract

Objective

Presentation of a novel case of a patient with Hb Bart's hydrops fetalis, which was accurately identified by SMRT sequencing leading to expand the mutation spectrum of α-thalassemia.

Case report

A 26-year-old pregnant woman and her husband underwent molecular analysis of thalassemia due to abnormal hematological results. The molecular analysis showed that the pregnant woman carried -α3.7/--SEA, while her husband exhibited a negative result. Accordingly, the pregnant woman continued the pregnancy until the 19-week gestational age. She was subsequently referred to our department for genetic counseling due to abnormal ultrasound findings in the fetus. A novel deletional α-thal mutation was detected for the husband by MLPA, and the precise location of the mutation was determined through SMRT sequencing, which revealed a 45.2 kb deletion. Later, an interventional umbilical cord blood puncture was offered for the pregnant woman. The cord blood was subjected to capillary electrophoresis, which revealed apparent Hb Bart's and Hb Portland peaks associated with Hb Bart's hydrops fetalis syndrome.

Conclusion

It is imperative that Hb Bart's hydrops fetalis syndrome be diagnosed with the utmost expediency. If results of molecular analysis are not consistent with the clinical hematological findings, the presence of a novel thalassemia could be suspected. To identify the novel genotype, the SMRT sequencing represents an effective method for achieving an accurate diagnosis.
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产前诊断后出现 Hb Bart 胎儿水肿的新病例:来自中国惠州的病例报告
病例报告一位 26 岁的孕妇及其丈夫因血液学结果异常而接受了地中海贫血分子分析。分子分析结果显示,孕妇携带-α3.7/--SEA,而其丈夫的结果为阴性。因此,孕妇继续妊娠至孕 19 周。由于胎儿的超声检查结果异常,她随后被转诊到我科接受遗传咨询。通过 MLPA 检测,发现丈夫有一个新的缺失α-thal 基因突变,并通过 SMRT 测序确定了基因突变的确切位置,发现有一个 45.2 kb 的缺失。随后,为孕妇进行了介入性脐带血穿刺。对脐带血进行了毛细管电泳,发现明显的 Hb Bart's 峰和 Hb Portland 峰与 Hb Bart's 胎儿水肿综合征有关。如果分子分析结果与临床血液学结果不一致,则可能怀疑存在新型地中海贫血。要确定新型基因型,SMRT 测序是实现准确诊断的有效方法。
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来源期刊
Practical Laboratory Medicine
Practical Laboratory Medicine Health Professions-Radiological and Ultrasound Technology
CiteScore
3.50
自引率
0.00%
发文量
40
审稿时长
7 weeks
期刊介绍: Practical Laboratory Medicine is a high-quality, peer-reviewed, international open-access journal publishing original research, new methods and critical evaluations, case reports and short papers in the fields of clinical chemistry and laboratory medicine. The objective of the journal is to provide practical information of immediate relevance to workers in clinical laboratories. The primary scope of the journal covers clinical chemistry, hematology, molecular biology and genetics relevant to laboratory medicine, microbiology, immunology, therapeutic drug monitoring and toxicology, laboratory management and informatics. We welcome papers which describe critical evaluations of biomarkers and their role in the diagnosis and treatment of clinically significant disease, validation of commercial and in-house IVD methods, method comparisons, interference reports, the development of new reagents and reference materials, reference range studies and regulatory compliance reports. Manuscripts describing the development of new methods applicable to laboratory medicine (including point-of-care testing) are particularly encouraged, even if preliminary or small scale.
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