Document Detail


Frequency of positive XmnIGgamma polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation.
MedLine Citation:
PMID:  19892574     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
From 362 thalassemia cases referred to adult thalassemia clinic of the Iranian blood transfusion organization (IBTO) for genotyping, 103 cases (28.5%) had a common primary disease factor, IVSII-1 mutation in homozygous state. 61 (59.2%) of these individuals represented thalassemia major and 42 (40.8%) thalassemia intermedia clinical phenotype. To re-evaluate our current diagnostic criteria, XmnI(G)gamma polymorphism and coexistence of alpha thalassemia mutations, frequently recalled as important factors modifying the clinical phenotype of homozygous beta zero thalassemia cases in our country, were examined in both groups. No statistically significant difference in the frequency of positive XmnI(G)gamma polymorphism was observed between thalassemia intermedia and thalassemia major patients. Double gene deletion --(Med) was observed in only one thalassemia major case, while -a(3.7) in heterozygous state (-a(3.7)/aa) was identified in 6 (9.8%) of thalassemia major and 8 (19%) of thalassemia intermedia patients. -a(4.2) was observed in only one thalassemia major case. No statistically significant difference in the frequency of coinheritance of alpha thalassemia was observed between the two groups. These results imply that other interacting mechanisms which modify the phenotype of thalassemia patients is still in the dark in our current diagnostic criteria of thalassemia.
Authors:
Maryam Neishabury; Azita Azarkeivan; Hossein Najmabadi
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Publication Detail:
Type:  Journal Article     Date:  2009-11-04
Journal Detail:
Title:  Blood cells, molecules & diseases     Volume:  44     ISSN:  1096-0961     ISO Abbreviation:  Blood Cells Mol. Dis.     Publication Date:    2010 Mar-Apr
Date Detail:
Created Date:  2010-02-01     Completed Date:  2010-04-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9509932     Medline TA:  Blood Cells Mol Dis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  95-9     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2009 Elsevier Inc. All rights reserved.
Affiliation:
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Tehran, Iran. nneisha@gmail.com
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Cohort Studies
Homozygote
Humans
Iran
Middle Aged
Mutation*
Polymorphism, Genetic*
Thalassemia / genetics*
Young Adult
alpha-Thalassemia / genetics*
beta-Globins / genetics
beta-Thalassemia / genetics
gamma-Globins / genetics*
Chemical
Reg. No./Substance:
0/beta-Globins; 0/gamma-Globins

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


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