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Xmn1‐ G γ polymorphism and clinical predictors of severity of disease in β‐thalassemia intermedia
Author(s) -
Oberoi Sapna,
Das Reena,
Panigrahi Inusha,
Kaur Jasbir,
Marwaha Ram K.
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.23175
Subject(s) - medicine , thalassemia , disease , gastroenterology , intermedia , polymorphism (computer science) , allele , genetics , art , performance art , biology , gene , art history
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. Pediatr Blood Cancer 2011; 57: 1025–1028. © 2011 Wiley‐Liss, Inc.