Pharmacogenomics and therapeutics of hemoglobinopathies

Hemoglobin

Volumn 32, Issue 1-2, 2008, Pages 229-236

  Patrinos, George P ^a   Grosveld, Frank G ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Thalassemia (thal); Genotyping; Pharmacogenetics; Pharmacogenomics; Sickle cell disease; Single nucleotide polymorphisms (SNPs)

Indexed keywords

5 AZA 2' DEOXYCYTIDINE; BETA GLOBIN; BUTYRIC ACID; CYTARABINE; HEMOGLOBIN F; HYDROXYUREA;

BETA THALASSEMIA; DOWN REGULATION; DRUG DOSE ESCALATION; DRUG MECHANISM; DRUG METABOLISM; GENE EXPRESSION; GENE LOCUS; GLOBIN GENE; HAPLOTYPE; HEMOGLOBINOPATHY; HUMAN; PHARMACOGENOMICS; QUANTITATIVE TRAIT LOCUS; REVIEW; SICKLE CELL ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION;

AZACITIDINE; BUTYRATES; FETAL HEMOGLOBIN; GENOME, HUMAN; HEMOGLOBINOPATHIES; HUMANS; HYDROXYUREA; PHARMACOGENETICS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 39249085963     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260701680367     Document Type: Review

References (20)

1. Roden DM, Altman RB, Benowitz NL, Flockhart DA, Giacomini KM, Johnson JA, Krauss RM, McLeod HL, Ratain MJ, Relling MV, Ring HZ, Shuldiner AR, Weinshilboum RM, Weiss ST. Pharmacogenetics Research Network. Pharmacogenomics: challenges and opportunitites. Ann Intern Med 2006; 145(10):749-757.
2. Pace BS, Zein S. Understanding mechanisms of γ-globin gene regulation to develop strategies for pharmacological fetal hemoglobin induction. Dev Dyn 2006; 235(7):1727-1737.
3. Charache S, Terrin ML, Moore RD, Dover GJ, Barton FB, Eckert SV McMahon RP, Bonds DR. Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. N Engl J Med 1995; 332(20):1317-1322.
4. Steinberg MH, Lu ZH, Barton FB, Terrin ML, Charache S, Dover GJ. Fetal hemoglobin in sickle cell anemia: determinants of response to hydroxyurea. Multicenter Study of Hydroxyurea. Blood 1997; 89(3):1078-1088.
5. Bakanay SM, Dainer E, Clair B, Adekile A, Daitch L, Wells L, Holley L, Smith D, Kutlar A. Mortality in sickle cell patients on hydroxyurea therapy. Blood 2005; 105(2): 545-547.
6. Yavarian M, Karimi M, Bakker E, Harteveld CL, Giordano PC. Response to hydroxyurea treatment in Iranian transfusion-dependent β-thalassemia patients. Haematologica 2004; 89(10):1172-1178.
7. Alebouyeh M, Moussavi F, Haddad-Deylami H, Vossough P. Hydroxyurea in the treatment of major β-thalassemia and importance of genetic screening. Ann Hematol 2004; 83(7):430-433.
8. Dixit A, Chatterjee TC, Mishra P, Choudhry DR, Mahapatra M, Tyagi S, Kabra M, Saxena R, Choudhry VP. Hydroxyurea in thalassemia intermedia-a promising therapy. Ann Hematol 2005; 84(7):441-446.
9. Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, Steinberg MH. Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea. Pharmacogenomics J 2007; 7(6):386-394.
10. Gγ globin production. Blood 1985; 66(4):783-787.
11. Gγ ?158, C→T). Hemoglobin 1995; 19(6):419-423.
12. Aγ-globin gene. Am J Hematol 2001; 66(2):99-104.
13. Gγ-globin gene expression and high Hb F levels in β-thalassemia and sickle cell anemia patients. Proc Natl Acad Sci USA 1985; 82(7):2111-2114.
14. S chromosomes with five different haplotypes. Blood 1991; 77(11):2488-2496.
15. Papachatzopoulou A, Kourakli A, Markopoulou P, Kakagianne T, Sgourou A, Papadakis M, Athanassiadou A. Genotypic heterogeneity and correlation to intergenic haplotype within high Hb F β-thalassemia intermedia. Eur J Haematol 2006; 76(4):322-330.
16. Papachatzopoulou A, Kaimakis P, Pourfarzad F, Menounos PG, Evangelakou P, Kollia P, Grosveld FG, Patrinos GP. Increased γ-globin gene expression in β-thalassemia intermedia patients correlates with a mutation in 3′HS1. Am J Hematol 2007; 82(11):1005-1009.
17. Shi JY, Shi ZZ, Zhang SJ, Zhu YM, Gu BW, Li G, Bai XT, Gao XD, Hu J, Jin W, Huang W, Chen Z, Chen SJ. Association between single nucleotide polymorphisms in deoxycytidine kinase and treatment response among acute myeloid leukaemia patients. Pharmacogenetics 2004; 14(11):759-768.
18. Kutlar A. Sickle cell disease: a multigenic perspective of a single gene disorder. Hemoglobin 2007; 31(2):209-224.
19. Patrinos GP, Kollia P, Papadakis MN. Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies. Hum Mutat 2005; 26(5):399-412.
20. Hershko C, Link G, Konijn AM, Cabantchik ZI. Objectives and mechanism of iron chelation therapy. Ann NY Acad Sci 2005; 1054:124-135.