Fetal hematological phenotypes of various hemoglobinopathies and demonstration of embryonic hemoglobins on capillary electrophoresis: a large cohort data from prenatal screening program

Kritsada Singha; Supawadee Yamsri; Attawut Chaibunruang; Hataichanok Srivorakun; Anupong Pansuwan; Kanokwan Sanchaisuriya; Goonnapa Fucharoen; Supan Fucharoen

doi:10.1515/dx-2024-0190

Article

Fetal hematological phenotypes of various hemoglobinopathies and demonstration of embryonic hemoglobins on capillary electrophoresis: a large cohort data from prenatal screening program

Kritsada Singha , Supawadee Yamsri , Attawut Chaibunruang , Hataichanok Srivorakun , Anupong Pansuwan , Kanokwan Sanchaisuriya , Goonnapa Fucharoen and Supan Fucharoen

Published/Copyright: January 30, 2025

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From the journal Diagnosis Volume 12 Issue 3

Abstract

Objectives

This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.

Methods

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.

Results

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-β⁰-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^E-globin gene in the Hb E trait and Hb E-β⁰-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.

Conclusions

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.

Keywords: prenatal diagnosis; fetal blood; thalassemia; hemoglobinopathies; Hb analysis

Corresponding author: Dr. Supan Fucharoen, Faculty of Associated Medical Sciences, Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, 40002, Thailand, E-mail: supan@kku.ac.th

Funding source: Mahasarakham University

Award Identifier / Grant number: not available

Funding source: Khon Kaen University

Award Identifier / Grant number: RP67-2 Research Center KKU-001

Acknowledgments

We thank Drs. Thawalwong Ratanasiri, Ratana Komwilaisakde, and Piyamas Saksiriwuttho of the Department of Obstetrics and Gynecology, Faculty of Medicine, Khon Kaen University for help in fetal specimen collection.

Research ethics: The study protocol received ethical approval from the Institutional Review Board (IRB) of Khon Kaen University, Thailand (HE652154).
Informed consent: Informed consent was obtained from all individuals included in this study.
Author contributions: KrS designed the study, performed experiments, analyzed the data, and developed the initial manuscript. SY, AC, HS, and AP helped in laboratory investigation and clinical data acquisition. KS and GF performed data analysis and interpretation of the cases. SF supervised results interpretation, designed and facilitated the study, acquired a research grant, and critically revised and approved the final manuscript. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interest: The authors state no conflict of interest.
Research funding: This project was financially supported by Khon Kaen University, Thailand, to SF (Contract ID: RP67-2-Research Center KKU-001) and Mahasarakham University, Thailand, to KrS.
Data availability: Further inquiries or data in this study can be directed to the corresponding author.

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Supplementary Material

This article contains supplementary material (https://doi.org/10.1515/dx-2024-0190).

Received: 2024-11-30

Accepted: 2025-01-07

Published Online: 2025-01-30

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Keywords for this article

prenatal diagnosis; fetal blood; thalassemia; hemoglobinopathies; Hb analysis