Publication: Hb Woodville, a rare α-globin variant, caused by codon 6 mutation of the α1 gene
Issued Date
2006-01-01
Resource Type
ISSN
16000609
09024441
09024441
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2-s2.0-33644873212
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Mahidol University
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SCOPUS
Bibliographic Citation
European Journal of Haematology. Vol.76, No.1 (2006), 79-82
Suggested Citation
Vip Viprakasit, Worrawut Chinchang, Pipat Chotimarat Hb Woodville, a rare α-globin variant, caused by codon 6 mutation of the α1 gene. European Journal of Haematology. Vol.76, No.1 (2006), 79-82. doi:10.1111/j.0902-4441.2005.t01-1-EJH2334.x Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/23861
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Title
Hb Woodville, a rare α-globin variant, caused by codon 6 mutation of the α1 gene
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Abstract
Since 1995, the national programme for the prevention and control of severe thalassaemia has been implemented in Thailand. This programme is composed of the population screening in pregnant women and couples by osmotic fragility, HbE screening and the confirmation test using haemoglobin analyses by electrophoresis or chromatography. Thereafter, several hitherto unidentified haemoglobins (Hbs) with structural defects are increasingly described and these variants are now easily studied using DNA technology. In this study, the authors describe the haematology and molecular analyses in a 28-yr-old healthy female who was identified as having an exceptionally 'high HbA2' from haemoglobin analysis. Subsequent analyses demonstrated that observed atypical 'HbA2' was, in fact, a rare innocuous α-globin variant, called Hb Woodville [alpha 2 6(A4); Asp → Tyr]. For the first time, this abnormal Hb species is characterised at the molecular level. © Blackwell Munksgaard 2005.