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http://purl.uniprot.org/citations/21755589http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
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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."xsd:string
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http://purl.uniprot.org/citations/21755589http://purl.uniprot.org/core/author"Kaur J."xsd:string
http://purl.uniprot.org/citations/21755589http://purl.uniprot.org/core/author"Das R."xsd:string
http://purl.uniprot.org/citations/21755589http://purl.uniprot.org/core/author"Panigrahi I."xsd:string
http://purl.uniprot.org/citations/21755589http://purl.uniprot.org/core/author"Oberoi S."xsd:string
http://purl.uniprot.org/citations/21755589http://purl.uniprot.org/core/author"Marwaha R.K."xsd:string
http://purl.uniprot.org/citations/21755589http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21755589http://purl.uniprot.org/core/name"Pediatr Blood Cancer"xsd:string
http://purl.uniprot.org/citations/21755589http://purl.uniprot.org/core/pages"1025-1028"xsd:string
http://purl.uniprot.org/citations/21755589http://purl.uniprot.org/core/title"Xmn1-G gamma polymorphism and clinical predictors of severity of disease in beta-thalassemia intermedia."xsd:string
http://purl.uniprot.org/citations/21755589http://purl.uniprot.org/core/volume"57"xsd:string
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