Laboratory investigations of Hb Constant Spring

Clinical and Laboratory Haematology
O TangvarasittichaiTorpong Sanguansermsri

Abstract

Hb Constant Spring (HbCS), a nondeletional alpha-thalassemia, is most prevalent in southern Chinese and southeast Asian populations. In conjunction with alpha-thalassemia-1 or in the homozygous state, it is an important cause of HbH disease. The present study was designed to test the efficiency of different diagnostic methods in detecting HbCS. The following laboratory tests were applied to blood samples from 1000 pregnant women attending an antenatal clinic at Buddhachinaraj Hospital in Phitsanulok, Thailand: mutation specific restriction enzyme digestion (RED), amplification refractory mutation system (ARMS) and automated high-performance liquid chromatography (HPLC). The results demonstrate that the DNA-based methods, RED and ARMS, are efficient diagnostic tools in detecting HbCS in homozygotes and heterozygotes, whereas automated HPLC gave accurate results for homozygous HbCS, but misidentified (no peak) some cases of HbCS trait. Standard hematological methods (determination of mean cell hemoglobin and mean cell volume) did not efficiently differentiate homozygous HbCS and HbCS trait from samples with normal alpha-globin chains. We conclude that RED is the preferable method for HbCS screening and then confirmed diagnostic t...Continue Reading

Citations

Nov 26, 2009·Journal of Pediatric Hematology/oncology·Dong-Zhi Li
Jul 23, 2008·Prenatal Diagnosis·Can LiaoDong-Zhi Li
Sep 3, 2011·International Journal of Laboratory Hematology·Sakorn PornprasertP Singboottra
Jul 16, 2014·Disease Markers·Kamonlak LeecharoenkiatDuncan R Smith
Apr 12, 2015·Clinical Biochemistry·Mathew P EsteyTrefor Higgins
Jul 14, 2016·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Sakorn PornprasertThanatcha Wiengkum
May 27, 2016·Clinical Chemistry and Laboratory Medicine : CCLM·Rattaporn UthaimongkolSakorn Pornprasert
Sep 26, 2015·Raja Zahratul Azma Raja SabudinDanny Koh Xuan Rong

Related Concepts

Hemoglobin Constant Spring
High Pressure Liquid Chromatography Procedure
DNA, Double-Stranded
Erythrocytes
Abnormal Hemoglobins
Restriction Fragment Length Polymorphism
Restriction Mapping
Laboratory Diagnosis
Nucleic Acid Amplification Tests

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