Document Detail


Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay.
MedLine Citation:
PMID:  11960579     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Alpha-thalassemia is a common hereditary anemia due to decreased or absent synthesis of alpha-globin chains. The most common causes of alpha-thalassemia are deletions that remove one or both functional alpha-globin genes, with a small proportion of cases involving nondeletional mutations of the alpha2- or alpha1-globin genes. Herein, we describe a single-tube multiplex amplification refractory mutation system (ARMS) assay for rapid detection of six of the most common and severe nondeletional alpha-thalassemia mutations. These alleles are found predominantly among southeast Asian populations, and are associated with the most severe forms of hemoglobin (Hb) H disease or Hb H hydrops fetalis.
Authors:
B Eng; M Patterson; L Walker; D H Chui; J S Waye
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Genetic testing     Volume:  5     ISSN:  1090-6576     ISO Abbreviation:  Genet. Test.     Publication Date:  2001  
Date Detail:
Created Date:  2002-04-18     Completed Date:  2002-05-15     Revised Date:  2006-03-28    
Medline Journal Info:
Nlm Unique ID:  9802546     Medline TA:  Genet Test     Country:  United States    
Other Details:
Languages:  eng     Pagination:  327-9     Citation Subset:  IM    
Affiliation:
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, McMaster University Medical Centre, Hamilton, Ontario, Canada L8N 3Z5.
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MeSH Terms
Descriptor/Qualifier:
Globins / genetics*
Humans
Infant, Newborn / blood
Point Mutation*
Polymerase Chain Reaction / methods*
Sensitivity and Specificity
alpha-Thalassemia / diagnosis,  genetics*
Chemical
Reg. No./Substance:
9004-22-2/Globins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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