Document Detail


Hb Woodville, a rare alpha-globin variant, caused by codon 6 mutation of the alpha1 gene.
MedLine Citation:
PMID:  16343275     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Vip Viprakasit; Worrawut Chinchang; Pipat Chotimarat
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of haematology     Volume:  76     ISSN:  0902-4441     ISO Abbreviation:  Eur. J. Haematol.     Publication Date:  2006 Jan 
Date Detail:
Created Date:  2005-12-13     Completed Date:  2006-03-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8703985     Medline TA:  Eur J Haematol     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  79-82     Citation Subset:  IM    
Affiliation:
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
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MeSH Terms
Descriptor/Qualifier:
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:
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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