Response to hydroxyurea in β thalassemia major and intermedia: Experience in western India

Clinica Chimica Acta

Volumn 407, Issue 1-2, 2009, Pages 10-15

  Italia, Khushnooma Y ^a   Jijina, Farah J ^b   Merchant, Rashid ^c   Panjwani, Sangeeta ^c   Nadkarni, Anita H ^a   Sawant, Pratibha M ^a   Nair, Sona B ^a   Ghosh, Kanjaksha ^a   Colah, Roshan B ^a  

^a NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY   (India)

^b KEM HOSPITAL   (India)

^c DR BALABHAI NANAVATI HOSPITAL   (India)

Author keywords

thalassemia; thalassemia; mRNA expression; Hydroxyurea; XmnI polymorphism

Indexed keywords

CYTODROX; FERRITIN; FOLIC ACID; HEMOGLOBIN F; HYDROXYUREA; MESSENGER RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALPHA THALASSEMIA; ARTICLE; BLOOD TRANSFUSION; CHILD; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA POLYMORPHISM; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; DRUG EFFICACY; DRUG TOLERABILITY; DRUG WITHDRAWAL; FEMALE; FERRITIN BLOOD LEVEL; FOLLOW UP; GENE EXPRESSION REGULATION; GENE MUTATION; HAPLOTYPE; HEREDITY; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; NEUTROPENIA; PATIENT COMPLIANCE; PRIORITY JOURNAL; SPLENECTOMY; THALASSEMIA; THALASSEMIA INTERMEDIA; THALASSEMIA MAJOR; TREATMENT RESPONSE;

ADOLESCENT; ADULT; BETA-THALASSEMIA; CHILD; CHILD, PRESCHOOL; FEMALE; FETAL HEMOGLOBIN; GENE EXPRESSION REGULATION; HAPLOTYPES; HEMATOLOGY; HUMANS; HYDROXYUREA; INDIA; MALE; MUTATION; POLYMORPHISM, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA, MESSENGER; TREATMENT OUTCOME; YOUNG ADULT;

EID: 67749088379     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.06.019     Document Type: Article

References (35)

1. Weatherall DJ, Clegg JB. The thalassemia syndromes. 4th Edition; Blackwell Scientific Publications, Oxford University Press, 2001; 100.
2. Giardine B., Baal S., Kaimakis P., et al. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Human Mutation database (2007), The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics 1-10
3. Rachmilewitz E.A., and Schrier S.L. Pathophysiology of β thalassemia. In: Steinberg M.H., Forget B.G., Higgs D.R., and Nagel R.L. (Eds). Disorders of hemoglobin: genetics, pathophysiology and clinical management (2001), Cambridge University Press, Cambridge 233-251
4. Wonke B. Clinical management of β thalassemia major. Semin Hematol 38 (2001) 350-359
5. Agarwal M.B. The burden of haemoglobinopathies in India - time to wake up?. J Assoc Physicians India 53 (2005) 1017-1018
6. Charache S., Terrin M.L., Moore R.D., et al. Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. N Engl J Med 332 (1995) 1317-1322
7. Bakanay S.M., Dainer E., Clair B., et al. Mortality in sickle cell patients on hydroxyurea therapy. Blood 105 (2005) 545-547
8. Italia K., Jain D., Gattani S., et al. Hydroxyurea in sickle cell disease - a study of clinico-pharmacological efficacy in the Indian haplotype. Blood Cells Mol Dis 42 (2009) 25-31
9. Miller B.A., Platt O., Hope S., Dover G., and Nathan D.G. Influence of hydroxyurea on fetal hemoglobin production in vitro. Blood 70 (1987) 1824-1829
10. Fibach E. Techniques for studying stimulation of fetal hemoglobin production in human erythroid cultures. Hemoglobin 22 (1998) 445-458
11. Platt O.S. Hydroxyurea for the treatment of sickle cell anemia. N Engl J Med 358 (2008) 1362-1369
12. Arruda V.R., Lima C.S., Saad S.T., and Costa F.F. Successful use of hydroxyurea in β-thalassaemia major. N Engl J Med 336 (1997) 964
13. Loukopoulos D., Voskaridou E., Stamoulakatou A., et al. Hydroxyurea therapy in thalassaemia. Ann N Y Acad Sci 850 (1998) 120-128
14. Alebouyeh M., Moussavi F., Haddad-Deylami H., and Vossough P. Hydroxyurea in the treatment of major β-thalassemia and importance of genetic screening. Ann Hematol 83 (2004) 430-433
15. Italia K., Colah R., and Mohanty D. Evaluation of F cells in sickle cell disorders by flow cytometry - comparison with the Kleihauer-Betke's slide method. Int J Lab Haematol 29 (2007) 409-414
16. Old J.M. DNA based diagnosis of the haemoglobin disorders. In: Steinberg M.H., Forget B.G., Higgs D.R., and Nagel R.L. (Eds). Disorders of haemoglobin - genetics, pathophysiology and clinical management (2001), Cambridge University Press, Cambridge 941-948
17. Colah R.B., Gorakshakar A.C., Lu C.Y., et al. Application of covalent reverse dot blot hybridization for rapid prenatal diagnosis of the common Indian thalassemia syndromes. Ind J Hematol Blood Transf 15 (1997) 10-13
18. Tan A.S., Quah T.C., Low P.S., and Chong S.S. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia. Blood 98 (2001) 250-251
19. s mutation. Blood 79 (1992) 787-792
20. Bustin S.A. Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays. J Mol Endocrinol 25 (2000) 169-193
21. Sukumaran P.K. Abnormal haemoglobins in India. In: Sen N.N., and Basu A.K. (Eds). Trends in Haematology, JB. Chatterjea Memorial Volume (1975) 241-250
22. In: Sood S.K., Madan N., Colah R., Sharma S., and Apte S.V. (Eds). Collaborative study on thalassemia - an ICMR Task Force Study (1993), Indian Council of Medical Research, New Delhi
23. Olivieri N.F., and Weatherall D.J. The therapeutic reactivation of fetal hemoglobin. Human Mol Genet 7 (1998) 1655-1658
24. Bianchi N., Zuccato C., Lampronti I., Borgatti M., and Gambari R. Fetal hemoglobin inducers from the natural world: a novel approach for identification of drugs for the treatment of β-thalassemia and sickle-cell anemia. Evid. Based Complement. Altern. Med. eCAM (2007) 1-11
25. Fibach E., Bianchi N., Borgatti M., Prus E., and Gambari R. Mithramycin induces fetal hemoglobin production in normal and thalassemic human erythroid precursor cells. Blood 102 (2003) 1276-1281
26. Mischiati C., Sereni A., Lampronti I., Bianchi N., Borgatti M., Prus E., Fibach E., and Gambari R. Rapamycin-mediated induction of γ-globin mRNA accumulation in human erythroid cells. Br J Haematol 126 (2004) 612-621
27. Bradai M., Abad M.T., Pissard S., Lamraoui F., Skopinski L., and Montalembert M. Hydroxyurea can eliminate transfusion requirements in children with severe β-thalassemia. Blood 102 (2003) 1529-1530
28. Yavarian M., Karimi M., Bakker E., Harteveld C.L., and Giordano P.C. Response to hydroxyurea treatment in Iranian transfusion-dependent β-thalassemia patients. Haematologica 89 (2004) 1172-1178
29. Panigrahi I., Dixit A., Arora S., Kabra M., Mahapatra M., Choudhry V.P., and Saxena R. Do α deletions influence hydroxyurea response in thalassemia intermedia. Hematology 10 (2005) 61-63
30. Dixit A., Chatterjee T.C., Mishra P., et al. Hydroxyurea in thalassemia intermedia-a promising therapy. Ann Hematol 84 (2005) 441-446
31. Colah R., Nadkarni A., Gorakshakar A., et al. Impact of β globin gene mutations on the clinical phenotype of β thalassemia in India. Blood Cells Mol Dis 33 (2004) 153-157
32. Verma I.C., Kleanthous M., Saxena R., et al. Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations. Hemoglobin 31 (2007) 439-452
33. Miller B.A., Olivieri N., Salameh M., et al. Molecular analysis of the high-hemoglobin-F phenotype in Saudi Arabian sickle cell anemia. N Engl J Med 316 (1987) 244-250
34. Chandy M., Srivastava A., Dennison D., Mathews V., and George B. Allogeneic bone marrow transplantation in the developing world: experience from a center in India. Bone Marrow Transplant 27 (2001) 785-790
35. Miccio A., Cesari R., Lotti F., et al. In vivo selection of genetically modified erythroblastic progenitors leads to long-term correction of β-thalassemia. Proc Natl Acad Sci USA 105 (2008) 10,547-10,552