Main Article Content
Mutations, β-thalassemia, thalidomide, demographics, responders, precision medicine
Background: β-thalassemia is a significant public health problem in Pakistan with higher carrier rate and disease frequencies. Its mutation prevalence is highly geographical and ethnicity dependent.
Objective: To investigate the prevalence of genetic mutations and demographics in transfusion-dependent β-thalassemia (TDT) patients in Pakistani communities.
Methodology: Samples were gathered from TDT patients who had been diagnosed and met the inclusion criteria. The SPPS 27 was applied to analyze comprehensive patient demographics, clinical history, and prognostic data. For detection of genetic mutations in TDT patients’ DNA extraction and polymerase chain reaction (PCR) were applied using the relevant screening protocols.
Results: A total of 384 patients of TDT were screened from almost 79 various ethnic castes of Pakistan. The Cd 8-9 (+G) mutation was discovered to have the highest number of mutations followed by IVS 1-5. In demographics, Dera Ghazi Khan led in the disease prevalence, followed by Peshawar, Malakand, and Kohat divisions. The areas that have a remarkably high Excellent and Good (Ex+G) responders were Rawalpindi, Multan, Faisalabad, Gujrat, Sukkur, Shaheed Benazirabad, and Merged Districts (Fata). The areas that have comparatively poor Ex+G responders (≤50%) were Sargodha, Sahiwal, Loralai, Pasheen, and Gilgit-Baltistan.
Conclusion: Our findings determined the prevalence of genetic mutations and demographics of TDT patients in the diverse community of Pakistan with significant response to low-dose thalidomide in most of the Pakistani communities. For precision medicine and further ensuring the safety and efficacy of low-dose thalidomide in TDT patients, multicenter and large scale clinical trials with Bayesian approach are recommended.
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