Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications

International Journal of Molecular Epidemiology and Genetics

Volumn 2, Issue 4, 2011, Pages 403-408

  Ansari, Saqib H ^a   Shamsi, Tahir S ^a   Ashraf, Mushtaq ^a   Bohray, Muneera ^a   Farzana, Tasneem ^a   Khan, Mohammed Tahir ^a   Perveen, Kousar ^a   Erum, Sajida ^a   Ansari, Iqra ^a   Nadeem, Muhammad ^a   Ahmed, Masood ^a   Raza, Faizan ^a  

^a National Institute of Blood Diseases   (Pakistan)

Author keywords

thalassemia; Genetic mutations; Molecular epidemiology; Pakistan

Indexed keywords

ALLELE; ARTICLE; BETA THALASSEMIA; BLOOD SAMPLING; BLOOD TRANSFUSION; CHORION VILLUS SAMPLING; COST EFFECTIVENESS ANALYSIS; CROSS-SECTIONAL STUDY; DATA ANALYSIS; DNA DETERMINATION; ETHNIC GROUP; FAMILY COUNSELING; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; MALE; MOLECULAR EPIDEMIOLOGY; PAKISTAN; PATIENT COUNSELING; PREGNANCY TERMINATION; PROSPECTIVE STUDY;

EID: 83655183066     PISSN: None     EISSN: 19481756     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Weatherall DJ, Clegg JB. The Thalassemia Syndromes, Fourth ed., Blackwell Sci., Oxford, 2001.
2. Angastiniotis M, Modell B. Global epidemiology of hemoglobin disorders. Ann NY Acad Sci 1998; 850: 251-69.
3. Ahmed S, Saleem M, Modell B, Petrou M. Screening extended families for genetic hemoglobin disorders in Pakistan. N Engl J Med 2010; 347: 1162-68.
4. Cao A, Rosatelli MC, Galanello R. Control of β- thalassemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience. Ciba Found Symp 1996; 197: 137-51, discussion 151-5.
5. Karimi M, Jamalian N, Yarmohammadi H, Askarnejad A, Afrasiabi A, Hashemi A. Premarital screening for β-thalassemia in Southern Iran: options for improving the program. J Med Screen 2007; 14: 62-6.
6. Baysal E, Carver MFH. The β and δ thalassemia repository. Hemoglobin 1995; 19: 213.
7. Ahmed S, Petrou M, Saleem M. Molecular genetics of β-thalassemia in Pakistan: a basis for prenatal diagnosis. Brit J Hematol 1996; 94: 476-482.
8. Khan SN, Riazuddin S. Molecular characterization of β-thalassemia in Pakistan. Hemoglobin 1998; 22: 333-345.
9. Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of β- thalassemia: Studies in Indian and Cypriot populations in the UK. The Lancet 1990; 336: 834-37.
10. Ahmed S, Saleem M, Sultana N, Raashid Y, Waqar A, Anwar M, Modell B, Karamat KA, Petrou M. Prenatal diagnosis of β-thalassemia in Pakistan: Experience in a Muslim country. Prenatal Diagnosis 2000; 20: 378-83.
11. Najmabadi H, Karimi-Nejad R, Sahebjam S, Pourfarzad F, Teimourian S, Sahebjam F,Amirizadeh N, Karimi-Nejad MH. The β- thalassemia mutation spectrum in the Iranian population. Hemoglobin 2001; 25: 285-96.
12. Colah R, Gorakshakar A, Nadkarni A, Phanasgaonkar S, Surve R, Sawant P, Mohanty D, Ghosh K. Regional heterogeneity of β- thalassemia mutations in the multi ethnic Indian population. Blood Cells Mol Dis 2009; 42: 241-246.
13. Shpilberg O, Dorman J, Ferrell R, Trucco M, Shahar A, Kuller LH. The next stage: Molecular epidemiology. J Clin Epidemiol 1997; 50: 633-38.
14. Hafeez M, Aslam M, Ali A, Rashid Y, Jafri H. Regional and ethnic distribution of β- thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis. J Coll Physicians Surg Pak 2007; 17: 144-7.
15. Baig SM, Azhar A, Hassan H, Baig JM, Kiyani A, Hameed U, Rabbi F, Bokhari H, Aslam M, Ud Din MA, Baig SA, Hassan K, Qureshi JA, Zaman T. Spectrum of β-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: Establishment of prenatal diagnosis. Hematologica 2006; 91: e13-e15.
16. Alwan A, Modell B. Community control of genetic and congenital disorders. EMRO technical publication series 24. Alexandria, Egypt: WHO Regional Office for the Eastern Mediterranean, 1997.