Fetal Diagnosis and Therapy
Original Paper
Fetal Red Blood Cell Parameters in Thalassemia and HemoglobinopathiesKarnpean R.a, b · Fucharoen G.b · Fucharoen S.b · Ratanasiri T.caBiomedical Sciences Program, Graduate School, bCentre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, and cDepartment of Obstetrics and Gynaecology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
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Article / Publication Details
Received: April 02, 2013
Accepted: July 10, 2013
Published online: September 14, 2013
Issue release date: October 2013
Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 1
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
Abstract
Introduction: With the lack of fetal blood specimens in routine practice, little is known about red blood cell (RBC) parameters of fetuses with various thalassemia syndromes. This study aimed to describe these in various forms of thalassemia. Materials and Methods: The study was performed on 93 fetal blood specimens obtained from pregnant women by cordocentesis during 18-24 weeks of gestation. RBC parameters were recorded on automated analyzer. Hemoglobin (Hb) and DNA analyses were performed for definite genotyping. Results: No significant difference in RBC parameters was observed between non-thalassemic fetuses and those with β-thalassemia trait, Hb E trait, homozygous Hb E and β-thalassemia/Hb E disease. However, in those with α⁰-thalassemia trait and double heterozygous α⁰-thalassemia/Hb E, slight reduction in mean corpuscular volume (MCV) was noted. Fetuses with the Hb H disease showed significant reductions in Hb, MCV and mean corpuscular Hb (MCH). Marked reductions in Hb, hematocrit, MCH and mean cell Hb concentration and increased RBC distribution width with numerous nucleated RBC were clearly observed in Hb Bart's hydrops fetalis. Conclusion: Simple analysis of fetal RBC parameters is useful for making presumptive prenatal diagnosis of α-thalassemia syndromes including Hb H disease and Hb Bart's hydrops fetalis which can then be confirmed by Hb and DNA analyses.
© 2013 S. Karger AG, Basel
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Article / Publication Details
Received: April 02, 2013
Accepted: July 10, 2013
Published online: September 14, 2013
Issue release date: October 2013
Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 1
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
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