Screening of Five Common Beta Thalassemia Mutations in the Pakistani Population A basis for prenatal diagnosis
Journal Title: Sultan Qaboos University Medical Journal - Year 2009, Vol 9, Issue 3
Abstract
Talassemia is one of the most common autosomal single-gene disorder worldwide. Te highest prevalence of the disease is in the “thalassemia belt†which includes the Mediterranean region, parts of the Middle East, the Indian subcontinent, the southern parts of the Far East, Pakistan and South-East Asia. Tis study aimed to detect the common molecular abnormalities of the beta thalassemia syndrome in Pakistan. Methods: Te study was conducted at the Institute of Hematology, Baqai Medical University, Karachi, Pakistan from August 2004 to November 2007. Blood samples of patients with beta thalassemia major (n = 400) were collected from hospital transfusion centres and diagnostic laboratories in different districts of Karachi representing fve major ethnic groups including Punjabi, Pathan, Sindhi, Baluchi and Urdu speaking. All the samples were analysed for fve common mutations by using the polymerase chain reaction technique ARMS (amplifcation of refractory mutation system). Results: Te data revealed fve common mutations including IVS 1-5(GC), Fr 41/42(-CTTT), Fr 8/9 (+G), IVS 1-1 and Del 619. Tese accounted for 90% of the total beta thalassemia genes in Pakistan. Te IVS 1-5(GC) was found to be the most common beta thalassemia gene in the Pakistani population with a frequency of 44.4% present in all major ethnic groups. Conclusion: Te results of this study will be helpful in the establishment of a large scale prenatal diagnosis programme in Pakistan.
Authors and Affiliations
Muhammad Usman| Departments of Hematology, Baqai Medical University, Karachi, Pakistan, Moinuddin Moinuddin| Departments of Hematology, Baqai Medical University, Karachi, Pakistan, Rubina Ghani| Departments of Biochemistry, Baqai Medical University, Karachi, Pakistan, Sadia Usman| Departments of Hematology, Baqai Medical University, Karachi, Pakistan
Keywords
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