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

Abstract:

:Hemoglobin (Hb) E is the commonest beta-globin variant in Thailand. Other uncommon variants have been rarely reported. We performed direct DNA sequencing of the entire beta-globin gene in cases showing unidentified bands by isolectric focusing electrophoresis or high-performance liquid chromatography. Six different beta-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/beta(0)-thalassemia compound heterozygote presented with symptomatic polycythemia.

journal_name

Int J Hematol

authors

Uaprasert N,Rojnuckarin P,Settapiboon R,Amornsiriwat S,Sutcharitchan P

doi

10.1007/s12185-009-0334-1

subject

Has Abstract

pub_date

2009-06-01 00:00:00

pages

568-71

issue

5

eissn

0925-5710

issn

1865-3774

journal_volume

89

pub_type

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