Prenatal diagnosis of beta-thalassemia major by high-performance liquid chromatography analysis of hemoglobins in fetal blood samples

Hemoglobin
T SanguansermsriG Flatz

Abstract

In Thailand and adjacent countries, most of the beta-thalassemia genes are beta(0)-thalassemia mutations that prevent the production of Hb A. We propose the quantitation of the Hb A fraction in fetal blood in the mid-trimester of pregnancy by automated high performance liquid chromatography as a reasonable prenatal diagnostic method to be applied in areas with limited laboratory facilities. Forty pregnant women at risk of delivering a child with beta-thalassemia major were identified using an erythrocyte osmotic fragility test and quantitation of Hb A2. Cordocentesis was performed at the gestational age of 18-22 weeks and fetal blood was analyzed for hemoglobin fractions by automated high performance liquid chromatography. The beta-globin gene mutations were characterized by beta-globin gene sequencing. The 4 bp deletion at codons 41/42 (-TTCT) was the most frequent of the 40 beta-thalassemia mutations observed (20/40 = 50%), followed by the splice site mutation IVS-I-1 (G-->T) (7/40 = 17.5%), the nonsense mutation at codon 17 (A-->T) (7/40 = 17.5%), the nonsense mutation at codon 35 (C-->A) (3/40 = 7.5%), and the beta(+)-thalassemia promoter mutation at -28 (A-->G) (3/40 = 7.5%). High performance liquid chromatography revealed...Continue Reading

References

Jan 1, 1989·Prenatal Diagnosis·P Rouyer-FessardY Beuzard
Mar 1, 1987·Prenatal Diagnosis·P Rouyer-FessardR S Mibashan
Apr 17, 1998·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·C WanapirakA Tuggapichitti

Citations

May 23, 2015·Clinical Chemistry and Laboratory Medicine : CCLM·Sakorn PornprasertKanokwan Jaiping
Aug 21, 2010·European Journal of Haematology·Sakorn Pornprasert, Kanyakan Sukunthamala
Dec 27, 2005·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Dongzhi LiJiaxue Wei
Jul 13, 2004·Proceedings of the National Academy of Sciences of the United States of America·Chunming DingY M Dennis Lo
Sep 22, 2010·Hemoglobin·Sakorn PornprasertKanyakan Sukunthamala

Related Concepts

High Pressure Liquid Chromatography Procedure
Sense Codon
DNA Mutational Analysis
Umbilical Cord Blood
Embryopathies
Gestational Age
Globin
Abnormal Hemoglobins
Antenatal Screening Procedures
Early Promoters, Genetic

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