Thalassemia is a congenital and hereditary disease and comprises a “group” of hematological phenotypes. The most common form of thalassemia is due to a defective beta gene. India has a huge burden of many patients with a β-thalassemia syndrome and sickle cell disease, but few among them are optimally managed, and allogeneic stem cell transplant is unaffordable for the majority of families. Thalassemia was considered by Caffey to be the best example of skeletal dwarfism and infantilism caused by chronic anemia. Transfusion therapy, which is the mainstay of treatment, allows for normal growth and development and suppresses ineffective erythropoiesis. Hematopoietic stem cell transplantation is the only available treatment with the high cost and scarcity of human leukocyte antigen (HLA)-matched, related donors. Prevention and control of beta-thalassemia disease require the accurate diagnosis of carriers and proper genetic counseling. Prenatal diagnosis can be performed in the first or second trimester of pregnancy by deoxyribonucleic acid (DNA) analysis using polymerase chain reaction (PCR). Since there are 17 mutations as well as rare ones causing beta-thalassemia in Asian Indians, the point mutation detection by reverse dot blot (RDB) allele-specific oligonucleotide hybridization for common mutations along with amplification refractory mutation system (ARMS) techniques has been developed for prenatal diagnosis. The author has tried to explain all the important facts regarding thalassemia in an Indian perspective in this article to help the readers.
Nadkarni A, Gorakshakar AC, Lu CY, Krishnamoorthy R, Ghosh K, Colah R, Mohanty D. Molecular pathogenesis and clinical variability of beta-thalassaemia syndromes among Indians. Am J Heamatol 2001 Oct;68(2):75-80.
Panigrahi I, Agarwal S, Pradhan M, Choudhry DR, Choudhry VP, Saxena R. Molecular characterization of thalassaemia intermedia in Indians. Haematologica 2006 Sep;91:1279-1280.
Bandyopadhyay S, Roychowdhury K, Chandra S, Das M, Dasgupta UB. Variable severity of beta-thalassaemia and xmnl polymorphism. Clin Exp Med 2001 Sep;1(3):155-159.
Panigrahi I, Marwaha RK. Mutational spectrum of thalassaemia in India. Indian J Hum Genet 2007 Jan-Apr;13(1):36-37.
Borgna-Pignatti C. Modern treatment of thalassaemia intermedia. Br J Haematol 2007 Aug;138(3):291-304.
Hill AV. Molecular epidemiology of the thalassaemia (including haemoglobin E). Baillieres Clin Haematol 1992 Jan;5(1):209-238.
Old JM, Khan SN, Verma I, Fucharoen S, Kleanthus M, Ioannou P, Kotea N, Fisher C, Riazuddin S, Saxena R, et al. A multi-center study in order to further define the molecular basis of beta-thalassaemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction. Hemoglobin 2001 Nov;25(4):397-407.
Sen R, Chakrabarti S, Sengupta B, De M, Haldar A, Poddar S, Gajra B, Talukder G. Alpha-thalassaemia among tribal populations of Eastern India. Hemoglobin 2005;29(4):277-280.
Ward A, Caro JJ, Green TC, Huybrechts K, Arana A, Wait S, Eleftheriou A. An international survey of patients with thalassaemia major and their views about sustaining life-long desferrioxamine use. BMC Clin Pharmacol 2002 Apr;2:3.
Kanga U, Panigrahi A, Kumar S, Mehra NK. Asian Indian donor marrow registry: All India Institute of Medical Sciences experience. Transplant Proc 2007 Apr;39(3):719-720.
Colah R, Mohanty D. Beta-thalassaemia: expression, molecular mechanisms and mutations in Indians. India J Pediatr 1999 Jan-Feb;66(1):36.
Karimi M, Ghiam AF, Hashemi A, Alinejad S, Soweid M, Kashef S. Bone mineral density in beta-thalassaemia major and intermedia. Indian Pediatr 2007 Jan;44(1):29-32.
Saini A, Chandra J, Goswami U, Singh V, Dutta AK. Case control study of psychosocial morbidity in beta thalassaemia major. J Pediatr 2007 May;150(5):516-520.
Balgir RS. Control and prevention of the genetic load of haemoglobinopathies in India. Natl Med J India 1999 Sep- Oct;12(5):234-238.
Bradai M, Pissard S, Abad MT, Dechartres A, Ribeil JA, Landais P, de Montalembert M. Decreased transfusion needs associated with hydroxyurea therapy in Algerian patients with thalassaemia major or intermedia. Transfusion 2007 Oct;47(10):1830-1836.
Shaji RV, Eunice SE, Baidya S, Srivastava A, Chandy M. Determination of the breakpoint and molecular diagnosis of a common alpha-thalassamia-1 deletion in the Indian population. Br J Haematol 2003 Dec;123(5):942-947.
George A, Bhaduri A, Choudhary VP. Development of secondary sex characteristics in multitranfused thalassaemia children. Indian J Pediatr 1997;64(6):855-859.
Shaji RV, Edison ES, Krishnamoorthy R, Chandy M, Srivastava A. Hb Lepore in the Indian population. Hemoglobin 2003 Feb;27(1):7-14.
Sankar VH, Arya V, Tewari D, Gupta UR, Pradhan M, Agarwal S. Genotyping of alpha-thalassaemia in microcytic hypochromic anemia patients from North India. J Appl Genet 2006;47(4):391-395.
Aesspos A, Kati M, Farmakis D. Heart disease in thalassaemia intermedia: a review of the underlying pathophysiology. Haematologica 2007 May;92(5):658-665.
Williams TN, Maitland K, Bennett S, Ganczakowski M, Peto TE, Newblod CL, Bowden DK, Weatherall DJ. High incidence of malaria in alpha-thalassaemia children. Nature 1994 Oct;383(6600):480-481.
Colah R, Nadhkarni A, Gorakshakar A, Phanasgaonkar S, Surve R, Subramaniam PG, Bondge N, Pujari K, Ghosh K, Mohanty D. Impact of beta globin gene mutations on the clinical phenotype of beta thalassaemia in India. Blood Cells Mol Dis 2004 Sep-Oct;33(2):153-157.
Kumar L. Haematopoietic stem cell transplantation: current status. Natl Med J India 2007 May-Jun;20(3):128-137.
Bandyopadhyay A, Bandyopadhyay S, Chowdhury MD, Dasgupta UB. Major beta-globin gene mutations in eastern India and their associated haplotypes. Hum Hered 1999 Jul;49(4):232-235.
Bashyam MD, Bashyam L, Savithri GR, Gopikrishna M, Sangal V, Devi AR. Molecular genetic analyses of beta-thalassaemia in South India reveals rare mutations in the beta-globin gene. J Hum Genet 2004;49(8):408-413.
Agarwal S, Gupta UR, Sarwai S, Phadke S, Agarwal SS. Prenatal diagnosis in beta-thalassaemia: an India experience. Fetal Diagn Ther 2003 Sep-Oct;18(5):328-332.
Bandyopadhyay A, Bandyopadhyay S, Basak J, Mondal BC, Sarkar AA, Majumdar S, Das MK, Chandra S, Mukhopadhyay A, Sanghamita M, et al. Profile of beta-thalassaemia in eastern India and its prenatal diagnosis. Prenat Diagn 2004 Dec;24(12): 992-996.
Nadkarni A, Sakaguchi T, Gorakshakar A, Phanasgaonkar S, Colah R, Mohanty D, Kiyama R. Three novel polymorphisms in the beta globin gene. Am J Hematol 2005 Oct;80(2): 161-163.
Panigrahi I, Marwaha RK. Common queries in thalassaemia care. Indian Pediatr 2006 Jun;43(6):513-518.
Verma IC, Bijarnia S. The burden of genetic disorders in India and a framework for community control. Community Genet 2002;5(3):192-196.