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01-06-2009 | Original Article

Clinical and hematological characteristics of uncommon beta-globin variants in Thailand

Authors: Noppacharn Uaprasert, Ponlapat Rojnuckarin, Rung Settapiboon, Supaporn Amornsiriwat, Pranee Sutcharitchan

Published in: International Journal of Hematology | Issue 5/2009

Abstract

Hemoglobin (Hb) E is the commonest β-globin variant in Thailand. Other uncommon variants have been rarely reported. We performed direct DNA sequencing of the entire β-globin gene in cases showing unidentified bands by isolectric focusing electrophoresis or high-performance liquid chromatography. Six different β-globin mutations were found in 24: 9 Hb Hope, 6 Hb New York, 4 Hb Tak, 3 Hb D Punjab, 1 Hb Pyrgos, and 1 Hb Rambam. Hb New York was misidentified as HbA on HPLC. All Hb Tak carriers had hemoglobin over 15.0 g/dL and a Hb Tak/β⁰-thalassemia compound heterozygote presented with symptomatic polycythemia.

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Title: Clinical and hematological characteristics of uncommon beta-globin variants in Thailand
Authors: Noppacharn Uaprasert
Ponlapat Rojnuckarin
Rung Settapiboon
Supaporn Amornsiriwat
Pranee Sutcharitchan
Publication date: 01-06-2009
Publisher: Springer Japan
Published in: International Journal of Hematology / Issue 5/2009
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI: https://doi.org/10.1007/s12185-009-0334-1

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