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Molecular Bases of ȕ–Thalassaemia in the Thalassaemic Population of Bhopa

Authors: C.B.S. Dang; N.C. Sharma; R. Mishra; M. Sajid;

Molecular Bases of ȕ–Thalassaemia in the Thalassaemic Population of Bhopa

Abstract

{"references": ["1. Borgna-Pignatti C, Rigolotto S, De Stefano P, Zhao H, Capellini MD, Del Vecchio G : Survival and complications in patients with thalassaemia major treated with transfusion and deferoxamine. Haematologica, 2004; 89:1187-1193.", "2. Fortina P, Dotti G, Conant R, Monokian G, Pareella T, Itctchcock W, Rappaport E, Schwartz E, Surry S : Detection of the most common mutations causing \u0215- thalassaemia in Mediterraneans using a multiplex amplification refractory mutation system (MARMS). PCR Methods Applications, 1992; 2(2):163\u2013166.", "3. Maggio A, Giambona A, Cai SP, Wall J, Kan YW, Chehab FF : Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta- thalassaemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily. Blood,1993; 81(1):239\u2013242", "4. Newton C R, Graham A, Heptinstall L E, Powell, SJ, Summers C, Kalasheker N, Smith JC, Markham AF : Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Research, 1989; 17: 2503-2516.", "5. Panigrahi S, Agarwal T, Gupta P, Singhal M, Pradhan M : Hemoglobin E-beta Thalassaemia: Factors affecting Phenotype. Indian Pediatrics, 2005; 42:351-352", "6. Panigrahi I, Agarwal S, Pradhan M, Choudhry DR, Choudhry VP and Saxena R : Molecular characterization of thalassaemia intermedia in Indians. Haematologica (the hematology journal), 2006; 91(9) :1279-1280.", "7. Shaji VR, Eunice SE, Balasubramanian P, Srivastava A, Chandy M : Rapid Detection of \u0215-Globin Gene Mutations and Polymorp-hisms by Temporal Temperature Gradient Gel Electrophoresis. Clinical Chemistry, 2003; 49: 777\u2013781.", "8. Steinber MH, Forget BG, Higgs DR Nagel RL : Disorders of haemoglobin. In: Genetics, Pathophysiology and Clinical management. Cambridge University Press, U.K. ; 2001.", "9. Sur D, Mukhopadhyay SP : Prevalence of thalassaemia trait in the state of West Bengal. Journal of Indian Medical Association, 2006; 104(1):11-15.", "10. Telfer P, Coen PG, Christou S, Hadjigavriel M, Kolnakou A, Pangalou E, Pavlides N, Psiloines M, Simamonian K, Skordos G, Sitarou M, Angastiniotis M : Survival of medically treated thalassaemia patients in Cyprus. Trends an d risk factors over th e period 1980 - 2004. Haematologica, 2006; 91:1187-1192.", "11. Varawalla N Y, Old J M, Sarkar R, Venkatesan R, Weatherall D J : Distribution and population genetics of the Thalassaemia patients in Indian states, British Journal of Haematology, 1991; 78: 2421 \u20132424", "12. Weatherall SJ. G, Nienhuis AW, Majerus PH, Varmus H : The Molecular Bases of Blood Diseases. 2nd Edn. W. B. Saunders, Philadelphia,1994; pp.157\u2013205"]}

Beta- Thalassaemia is a group of heterogeneous recessive disorders common in many parts of the world and one of a major haemoglobinopathy of wide occurrence in the Indian sub-continent. It is distributed to different degrees in different sub-populations. The treatment of this disorder is quite expensive and counseling seems to be the only way for controlling it. Genetic analysis for Beta - Thalassaemia disorder is carried out by Amplification Refractory Mutation System (ARMS) technique. Blood samples of 50 cases of thalassaimia were obtained from patient attending Pediatrics OPD of Gandhi Medical College & Delta Pathology laboratory, Bhopal and were tested. Out of seven common ȕ - thalassaemia mutation, IVS1 [Intra Venous Sequences] nt 5 [nucleotides] (GJC)], IVS1 nt 1 (GJT), Deletion 619 bp (basic pair) and Cap+1(AJC) were found in population of Bhopal in 39.52%, 16.27%, 18.59%, 6.97% respectively. Early detection of thalassaemia is, therefore, important not only from treatment point of view, but also for the prevention by genetic counseling.

Keywords

ȕ - thalassaemia, Mutation, Prenatal diagnosis, Central India, Genetic counseling

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