Document Detail


Xmn1-G γ polymorphism and clinical predictors of severity of disease in β-thalassemia intermedia.
MedLine Citation:
PMID:  21755589     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: To determine the prevalence of Xmn1-(G)γ polymorphism in North Indian children and adolescents with β thalassemia intermedia (TI) and to correlate it with disease severity.
METHODS: All patients of thalassemia intermedia presenting to the pediatric hematology clinic of a tertiary care hospital in North India were enrolled. Clinical severity of their disease was assessed by a phenotypic score proposed by Phadke and Agarwal. They were classified according to status of their Xmn1-(G)γ polymorphism as Xmn1-(G)γ +/+, Xmn1-(G)γ +/-, and Xmn1-(G)γ -/- by molecular analysis.
RESULTS: A total of 104 patients were enrolled. Severe TI was seen in 56.7% (59) patients, while 43.3% (45) had non-severe TI. Jaundice was more frequent in severe TI than in non-severe TI. Xmn1-(G)γ +/+ was present in 25.9% (25) patients. The frequency of the Xmn1-(G)γ +/- and Xmn1-(G)γ -/- was 22% and 37.3% in severe TI children. The corresponding frequencies were 31.1% and 42.2% in non-severe TI group respectively. No significant correlation was observed between the Xmn1-(G)γ polymorphism and severity of thalassemia, age at onset of symptoms, age at diagnosis, age at first transfusion, transfusion frequency or average hemoglobin levels. HbF level was significantly higher in Xmn1-(G)γ +/+ and Xmn1-(G)γ +/- patients.
CONCLUSIONS: This study showed that although the prevalence of Xmn1-(G)γ polymorphism is high in β thalassemia intermedia patients, it alone could not predict clinical severity in TI patients. Further refinement and validation of clinical scoring system is necessary for guiding appropriate management.
Authors:
Sapna Oberoi; Reena Das; Inusha Panigrahi; Jasbir Kaur; Ram K Marwaha
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Publication Detail:
Type:  Journal Article     Date:  2011-07-13
Journal Detail:
Title:  Pediatric blood & cancer     Volume:  57     ISSN:  1545-5017     ISO Abbreviation:  Pediatr Blood Cancer     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2011-09-12     Completed Date:  2012-01-06     Revised Date:  2012-02-28    
Medline Journal Info:
Nlm Unique ID:  101186624     Medline TA:  Pediatr Blood Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1025-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Wiley-Liss, Inc.
Affiliation:
Department of Pediatrics, Pediatric Hematology-Oncology Unit, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, UT, India.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child
Child, Preschool
Deoxyribonucleases, Type II Site-Specific / metabolism*
Female
Hemoglobins / genetics*,  metabolism*
Humans
India
Infant
Male
Phenotype
Polymorphism, Genetic / genetics*
Predictive Value of Tests
Severity of Illness Index
beta-Thalassemia / diagnosis,  genetics*,  pathology*
Chemical
Reg. No./Substance:
0/Hemoglobins; EC 3.1.21.-/endodeoxyribonuclease XmnI; EC 3.1.21.4/Deoxyribonucleases, Type II Site-Specific

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