Two β-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin

European Journal of Haematology

Volumn 75, Issue 1, 2005, Pages 47-53

  Bandyopadhyay, Sanmay ^a   Mondal, Bama Charan ^a   Sarkar, Pabak ^a   Chandra, Sarmila ^b   Das, M K ^b   Dasgupta, Uma B ^a  

^a UNIVERSITY OF CALCUTTA   (India)

^b Kothari Medical Centre   (India)

Author keywords

thalassemia; (AT)xTyi; E thalassemia; HbF; Xmn I polymorphism

Indexed keywords

BETA GLOBIN; HEMOGLOBIN F;

ALPHA THALASSEMIA; ARTICLE; BETA THALASSEMIA; BLOOD TRANSFUSION; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HAPLOTYPE; HEREDITY; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL;

ALPHA-THALASSEMIA; FEMALE; FETAL HEMOGLOBIN; HEMOGLOBINS, ABNORMAL; HUMANS; LINKAGE (GENETICS); MALE; MULTIGENE FAMILY; PHENOTYPE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; QUANTITATIVE TRAIT LOCI;

EID: 21044450187     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2005.00416.x     Document Type: Article

References (29)

1. FORGET BG. Molecular basis of hereditary persistence of fetal hemoglobin. Ann N Y Acad Sci 1998;850:38-44.
2. Gγ globin production. Blood 1985;66:783-787.
3. Gγ-globin gene expression and high-HBF levels in β-thalassemia and sickle cell anemia. Proc Natl Acad Sci USA 1985;82:2111-2114.
4. CRAIG JE, ROCHETTE J, FISHER CA, WEATHERALL DJ, MARC S, LATHROP GM, DEMENAIS F, THEIN, SL. Dissecting the loci controlling 11p and 6q by the nregressive approach. Nat Genet 1996;12:58-64.
5. MIYOSHI K, KANETO Y, KAWAI H, OHCHI H, NIKI S, HASEGAWA K, SHIRAKAMI A, YAMANO T. X-linked dominant control of F-cells in normal adult life: Characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene (s) on X-chromosome. Blood 1988;72:1854-1860.
6. GARNER C, TATU T, REITTIE JE, LITTLEWOOD T, DARLEY J, CERVINO S, FARRALL M, KELLY P, SPECTOR TD, THEIN SL. Genetic influences of F cells and other hematologic variables: A twin heritable study. Blood 2000;95:342-346.
7. SAMPIETRO M, THEIN SL, CONTRERAS M, PAZMANY L. Variation of HbF and F-cell number with Gγ XmnI (C-T) polymorphism in normal individuals. Blood 1992;79:832-833.
8. LEONOVA JY, KAZANETZ EG, SMETANINA NS, ADEKILE AD, EFREMOV GD, HUISMAN THJ. Variability in the fetal hemoglobin level of the normal adult. Am J Hematol 1996;53:59-65.
9. LABIE D, DUNDA-BELKHODJA O, ROUABHI F, PAGNIER J, RAGUSA A, NAGEL RL. The -158 site 5′ to the Gγ gene and Gγ expression. Blood 1985;66:1463-1465.
10. s globin haplotypes in an Indian population with sickle cell disease. Blood 1987;69:1742-1746.
11. RAGUSA A, LOMBARDO M, BELDJORD C, RUBERTO C, LOMBARDO T, ELION J, NAGEL, RL, KRISHNAMOORTHY R. Genetic epidemiology of β-thalassemia in Sicily: do sequences 5′ to the Gγ gene and 5′ to the β gene interact to enhance HbF response in β-thalassemia? Am J Hematol 1992;40:199-206.
12. GONCALVES I, DUCROCQ R, LAVINHA J, et al. Combined effect of two different polymorphic sequences within the β globin gene cluster on the level of HbF. Am J Hematol 1998;57:269-276.
13. GONCALVES I, HENRIQUES A, RAIMUNDO A, PICANCO I, REIS A, CORREIA E Jr, SANTOS E, NOGUIERA P, ALMEIDA LO. Fetal hemoglobin elevation in Hb Lepore heterozygotes and its correlation with β globin cluster linked determinants. Am J Hematol 2002;69:95-102.
14. BANDYOPADHYAY A, BANDYOPADHYAY S, CHOWDHURY MD, DASGUPTA UB. Major beta globin gene mutations in Eastern India and their associated haplotypes. Hum Hered 1999;49:232-235.
15. BANDYOPADHYAY S, ROYCHOWDHURY K, CHANDRA S, DAS M, DASGUPTA UB. Variable severity of β-Thalassemia Patients of Eastern India. Clin Exp Med 2001;1:155-159.
16. HUISMAN THJ. Separation of hemoglobins and hemoglobin chains by high-performance liquid chromatography. J Chromatogr 1987;418:277-304.
17. WEATHERALL DJ, PRESSLEY L, WOOD WG, HIGGS DR, CLEGG JB. Molecular basis of mild forms of homozygous β-thalassemia. Lancet 1981;I:527-529.
18. WINICHAGOON P, FUCHAROEN S, WEATHERALL DJ, WASI P. Concomitant inheritance of α-thalassemia in β-thalassemia/HbE. Am J Hematol 1985;20:217-222.
19. LIAKOPOULOU E, LI Q, STAMATOYNNOPOULOS G. Induction of fetal hemoglobin by propionic and butyric acid derivatives: Correlation between chemical structure and potency of HbF induction. Blood Cells Mol Dis 2002;29: 48-56.
20. ORKIN SH, KAZAZIAN HH, ANTONARAKIS SE, GOFF SC, BOEHM CD, SEXTON JP, WABER PG, GIARDINA PJV. Linkage of beta thalassemia mutations and beta globin gene polymorphisms with DNA polymorphisms in human beta globin gene cluster. Nature 1982;96:627-631.
21. LABIE D, ELION J. Sequence polymorphisms of potential functional relevance in the β-globin gene locus. Hemoglobin 1996;20(2):85-101.
22. WINICHAGOON P, THONGLAIROAM V, FUCHAROEN S, WILAIRAT P, FUKUMAKI Y, WASI P. Severity differences in beta thalassemia/hemoglobin E syndromes: implication of genetic factors. Br J Haematol 1993;83:633-639.
23. Lu Z-H, STEINBERG MH. Fetal hemoglobin in sickle cell anemia: relation to regulatory sequences cis to the β-globin gene. Blood 1996;87:1604-1611.
24. BRADAI M, ABAD MT, PISSARD S, LAMRAOUI F, SKOPINSKI L, DE MONTALEMBERT M. Hydroxyurea can eliminate transfusion requirements in children with severe β-thalassemia. Blood 2003;102:1529-1530.
25. KUKRETI R, DASH D, VINEETHA KE, CHAKRAVARTY S, DAS S, DE M, TALUKDER G. Spectrum of β-thalassemia mutations and their association with allelic sequence polymorphisms at the β-globin gene cluster in an Eastern Indian population. Am J Hematol 2002;70:269-277.
26. VARAWALLA NY, FITCHES AC, OLD JM. Analysis of β-globin gene haplotypes in Asian Indians: origin and spread of β-thalassemia on the Indian subcontinent. Hum Genet 1992;90:443-449.
27. WONG SC, STOMING TA, EFREMOV GD, HUISMAN THJ. High frequencies of a rearrangement (+ATA; -T) at -530 to the β-globin gene in different populations indicate the absence of a correlation with a silent β-thalassemia determinant. Hemoglobin 1989;13:1-5.
28. y upstream to the β-globin gene is a simple polymorphism. Blood 1993;81:1974.
29. S haplotypes are generated by diverse genetic mechanisms. Am. J Haematol 2000;63:79-84.