| Xmn1-G γ polymorphism and clinical predictors of severity of disease in β-thalassemia intermedia. | |
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MedLine Citation:
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PMID: 21755589 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Sapna Oberoi; Reena Das; Inusha Panigrahi; Jasbir Kaur; Ram K Marwaha |
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Publication Detail:
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Type: Journal Article Date: 2011-07-13 |
Journal Detail:
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Title: Pediatric blood & cancer Volume: 57 ISSN: 1545-5017 ISO Abbreviation: Pediatr Blood Cancer Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-09-12 Completed Date: 2012-01-06 Revised Date: 2012-02-28 |
Medline Journal Info:
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Nlm Unique ID: 101186624 Medline TA: Pediatr Blood Cancer Country: United States |
Other Details:
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Languages: eng Pagination: 1025-8 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, Pediatric Hematology-Oncology Unit, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, UT, India. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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:
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0/Hemoglobins; EC 3.1.21.-/endodeoxyribonuclease XmnI; EC 3.1.21.4/Deoxyribonucleases, Type II Site-Specific |
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