Literature DB >> 19440680

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

Noppacharn Uaprasert1, Ponlapat Rojnuckarin, Rung Settapiboon, Supaporn Amornsiriwat, Pranee Sutcharitchan.   

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.

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Year:  2009        PMID： 19440680     DOI： 10.1007/s12185-009-0334-1

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


  13 in total

1.  The oxygen affinity of haemoglobin Tak, a variant with an elongated beta chain.

Authors:  K Imai; H Lehmann
Journal:  Biochim Biophys Acta       Date:  1975-12-15

2.  HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: a study of 60000 samples in a clinical diagnostic laboratory.

Authors:  Alla Joutovsky; Joan Hadzi-Nesic; Michael A Nardi
Journal:  Clin Chem       Date:  2004-10       Impact factor: 8.327

3.  Hemoglobin H disease classification by isoelectric focusing: molecular verification of 110 cases from Thailand.

Authors:  Pranee Sutcharitchan; Wen Wang; Rung Settapiboon; Supaporn Amornsiriwat; Arnold S C Tan; Samuel S Chong
Journal:  Clin Chem       Date:  2005-01-13       Impact factor: 8.327

4.  Hematological and molecular characterization of beta-thalassemia/Hb Tak compound heterozygote.

Authors:  Pimlak Charoenkwan; Pattra Thanarattanakorn; Siriporn Chaovaluksakul; Somjai Sittipreechacharn; Rattika Sae-Tang; Torpong Sanguansermsri
Journal:  Southeast Asian J Trop Med Public Health       Date:  2003-06       Impact factor: 0.267

5.  Hb Tak confirmed by DNA analysis: not expressed as thalassemia in a Hb Tak/Hb E compound heterozygote.

Authors:  J D Hoyer; M J Wick; S N Thibodeau; K A Viker; R Conner; V F Fairbanks
Journal:  Hemoglobin       Date:  1998-01       Impact factor: 0.849

6.  Homozygous hemoglobin Tak causes symptomatic secondary polycythemia in a Thai boy.

Authors:  Voravarn S Tanphaichitr; Vip Viprakasit; Gavivann Veerakul; Kleebsabai Sanpakit; Panutsaya Tientadakul
Journal:  J Pediatr Hematol Oncol       Date:  2003-03       Impact factor: 1.289

7.  Abnormal hemoglobins found in Guangdong, P.R. China.

Authors:  P C Jen
Journal:  Hemoglobin       Date:  1987       Impact factor: 0.849

8.  Hemoglobin New York in Chinese subjects in Taiwan.

Authors:  R Q Blackwell; C S Liu; C L Wang
Journal:  Am J Phys Anthropol       Date:  1971-05       Impact factor: 2.868

9.  Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease.

Authors:  Thanyachai Sura; Manisa Busabaratana; Supak Youngcharoen; Raewadee Wisedpanichkij; Vip Viprakasit; Objoon Trachoo
Journal:  Eur J Haematol       Date:  2007-07-26       Impact factor: 2.997

10.  Hemoglobin Rambam (beta69[E13]Gly-->Asp), a pitfall in the assessment of diabetic control: characterization by electrospray mass spectrometry and HPLC.

Authors:  E Bissé; N Zorn; A Eigel; M Lizama; P Huaman-Guillen; W März; A Van Dorsselaer; H Wieland
Journal:  Clin Chem       Date:  1998-10       Impact factor: 8.327
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  2 in total

1.  Molecular basis and hematological features of hemoglobin variants in Southern Thailand.

Authors:  Vannarat Saechan; Chawadee Nopparatana; Chamnong Nopparatana; Suthat Fucharoen
Journal:  Int J Hematol       Date:  2010-09-14       Impact factor: 2.490

2.  The first validated criteria for effective screening and a new simplified method for α-globin gene sequencing for diagnosis of uncommon α-globin mutations.

Authors:  Noppacharn Uaprasert; Rung Settapiboon; Supaporn Amornsiriwat; Pranee Sutcharitchan; Ponlapat Rojnuckarin
Journal:  Int J Hematol       Date:  2017-02-06       Impact factor: 2.490
  2 in total

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