| Hb Woodville, a rare alpha-globin variant, caused by codon 6 mutation of the alpha1 gene. | |
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MedLine Citation:
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PMID: 16343275 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 alpha-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. |
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Authors:
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Vip Viprakasit; Worrawut Chinchang; Pipat Chotimarat |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: European journal of haematology Volume: 76 ISSN: 0902-4441 ISO Abbreviation: Eur. J. Haematol. Publication Date: 2006 Jan |
Date Detail:
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Created Date: 2005-12-13 Completed Date: 2006-03-01 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8703985 Medline TA: Eur J Haematol Country: Denmark |
Other Details:
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Languages: eng Pagination: 79-82 Citation Subset: IM |
Affiliation:
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Department of Paediatrics and WHO Collaborating Centre for the Control of Haemoglobinopathies, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. sivvp@mahidol.ac.th |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Amino Acid Substitution* Codon / genetics* DNA Mutational Analysis Female Hemoglobin E / genetics Hemoglobins, Abnormal / genetics* Humans Point Mutation* beta-Thalassemia / genetics |
| Chemical | |
Reg. No./Substance:
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0/Codon; 0/Hemoglobins, Abnormal; 102641-40-7/hemoglobin Woodville; 9034-61-1/Hemoglobin E |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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