Relation of Xmn-1 polymorphism & five common Indian mutations of thalassaemia with phenotypic presentation in β-thalassaemia

JK Science

Volumn 8, Issue 3, 2006, Pages 139-143

  Aditya, Raina ^a,b   Verma, I C ^a   Saxena, Renu ^a   Kaul, Dinesh ^a   Khanna, V K ^a  

^a SIR GANGA RAM HOSPITAL   (India)

^b NONE   (India)

Author keywords

IVS 1 1; Mutations; Phenotype; Thalassaemia; Xmn 1 polymorphism

Indexed keywords

HEMOGLOBIN; PROTEIN DERIVATIVE; XMN 1 PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BETA THALASSEMIA; BLOOD TRANSFUSION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; FEMALE; GENETIC POLYMORPHISM; HEMOGLOBIN SYNTHESIS; HUMAN; INDIAN; INFANT; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PHENOTYPIC VARIATION;

EID: 33751564490     PISSN: 09721177     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Balgir, R.S., The burden of haemoglobinopathies in India and the challenges ahead. Curr Sci 2000; 79(11): 1536-47.
2. Verma, I.C., Burden of genetic disorders in India. Indian J Pediatr 2000; 67 (12): 893-98.
3. International Committee for Standardization in Haemotology. Recommendations for selected methods for quantitative estimation of HbA, and HbA, reference preparation. Brit J Haemat 1978; 38: 573-78.
4. Gilman JG, Huisman THJ. DNA sequence variation associated with elevated fetal Gg globin production Blood. 1985; 66: 783-87.
5. Thein SL, Hesketh C, Wallace RB, Weatherall DJ. The molecular basis of the thalassaemia major and thalassaemia intermediate in Asian Indians: application to prenatal diagnosis. Br J Hematol 1998; 70: 225-31.
6. Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ. The spectrum of b-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Br J Hematol 1991; 78: 242-48.
7. Fairbanks VF. Thalassaemias and related disorders: Haemoglobinopathies and thalassaemias. In (ed.) Brain C. Decker, New York. 1980; 4th edition chapter 24: 561-65.
8. Bunn HF, Forget BG. Hemoglobin. Molecular genetic and clinical aspects. W.B. Saunders, Philadelphia; 2nd edition, 1986, pp 53-56.
9. Weatherall DJ, Clegg JB. The thalassaemia syndromes. Blackwell Scientific Publications, Oxford; 4th edition 1981, pp 848-54.
10. 0-globin mutation. Implication of the haplotype and the Gg-158 CÒT mutation on the HbF level. Am J Hematol 2000; 64(3): 151-55.
11. Winichagoon P, Fucharoen S, Chen P, Wasi P. Genetic factors affecting clinical severity in b-thalassaemia syndromes. J Pediatr Hematol Oncol 2000; 22(6): 573-80.
12. Rund D, Oron-Karni V, Filon D, Goldfarb A, Rachmilewitz E, OppenheimA. Genetic analysis of β-thalassaemia intermidia in Israel: Diversity of mechanisms and unpredictability of phenotype. Am J Hematol 1997; 54: 16-22.
13. Cappellini N, Cohen A, Eleftheriou A, Piga A, Poter J. Guidelines for the clinical management of thalssaemia. J Pediatr Hematol Oncol 2000; 22(1): 15-19.
14. Kultar A, Kultar F, Wilson JB, Headlee MG, Huisman THJ. Quantification of haemoglobin componenets by High-performance cation exchange liquid chromatography. Am J Hematol 1984; 17: 39-53