Xmn1- Gγ polymorphism and clinical predictors of severity of disease in β-thalassemia intermedia

Pediatric Blood and Cancer

Volumn 57, Issue 6, 2011, Pages 1025-1028

  Oberoi, Sapna ^a   Das, Reena ^a   Panigrahi, Inusha ^a   Kaur, Jasbir ^a   Marwaha, Ram K ^a  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

Author keywords

Asian Indians; Genotype; Phenotype; Thalassemia syndromes; Xmn1 G polymorphism

Indexed keywords

GAMMA GLOBIN; HEMOGLOBIN; HEMOGLOBIN F; UNCLASSIFIED DRUG; XMN1 G GAMMA PROTEIN;

ARTICLE; BETA THALASSEMIA; BETA THALASSEMIA INTERMEDIA; BLOOD SAMPLING; BLOOD TRANSFUSION; CHILD; DISEASE SEVERITY; FEMALE; GENETIC POLYMORPHISM; GENOTYPE; HEMOGLOBIN BLOOD LEVEL; HUMAN; INFANT; JAUNDICE; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; THALASSEMIA;

ADOLESCENT; BETA-THALASSEMIA; CHILD; CHILD, PRESCHOOL; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; HEMOGLOBINS; HUMANS; INDIA; INFANT; MALE; PHENOTYPE; POLYMORPHISM, GENETIC; PREDICTIVE VALUE OF TESTS; SEVERITY OF ILLNESS INDEX;

EID: 80052647585     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.23175     Document Type: Article

References (18)

1. Weatherall DJ, Clegg JB. The thalassemia syndromes. 3rd edition. Oxford, England: Blackwell Science; 1981.
2. Modell B, Berdoukas V. Thalassemia intermedia. In: The clinical approach to thalassemia. London: Grune & Stratton; 1984. pp. 242-255.
3. Camaschella C, Cappellini MD. Thalassemia intermedia: Molecular basis of disease. Haematologica 1995; 80: 58-68.
4. Thein SL, Perrine SP, Leboulch P. Pathophysiology of β thalassemia-A guide to molecular therapies. Hematology 2005; 1: 33-36.
5. Garner C, Tatu T, Reittie JE, et al. Genetic influences on F cells and other hematologic variables: A twin heritability study. Blood 2000; 95: 342-346.
6. Garner C, Tatu T, Game L, et al. A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis. Gene Screen 2000; 1: 9-14.
7. Thein SL, Hesketh C, Wallace RB, et al. The molecular basis of thalassemia major and thalassemia intermedia in Asian Indians: Application to prenatal diagnosis. Br J Haematol 1988; 70: 225-231.
8. Ho PJ, Hall GW, Luo LY, et al. Beta thalassemia intermedia: Is it possible to consistently predict phenotype from genotype? Br J Haematol 1998; 100: 70-78.
9. Phadke SR, Agarwal S. Phenotype score to grade the severity of thalassemia intermedia. Indian J Pediatr 2003; 70: 477-481.
10. Craig JE, Sheerin SM, Barnetson R, et al. The molecular basis of HPFH in a British family identified by heteroduplex formation. Br J Haematol 1993; 84: 106-110.
11. Panigrahi I, Agarwal S. Genetic determinants of phenotype in the beta-thalassemia. Hematology 2008; 13: 247-252.
12. Kalotychou V, Antonatou K, Tzanetea R, et al. Analysis of the A(TA)(n)TAA configuration in the promoter region of the UGT1 A1 gene in Greek patients with thalassemia intermedia and sickle cell disease. Blood Cells Mol Dis 2003; 31: 38-42.
13. Galanello R, Cipolina MD, Dessi C, et al. Co-inherited Gilbert's syndrome: A factor determining hyperbilirubinemia in homozygous b-thalassemia. Haematologica 1999; 84: 103-105.
14. Panigrahi I, Agarwal S, Pradhan M, et al. Molecular characterization of thalassemia intermedia in Indians. Hematologica 2006; 91: 1279-1280.
15. Aessopos A, Farmakis D, Karagiorga M, et al. Cardiac involvement in thalassemia intermedia: A multicenter study. Blood 2001; 97: 3411-3416.
16. Thein SL. Genetic insight into the clinical diversity of beta thalassemia. Br J Haematol 2004; 124: 264-274.
17. Nadkarni A, Gorashaker AC, Lu CY, et al. Molecular pathogenesis and clinical variability of β-thalassemia syndromes among Indians. Am J Hematol 2001; 68: 75-80.
18. Sharma N, Das R, Kaur J, et al. Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with thalassemia major. Eur J Haematol 2010; 84: 531-537.