Abstract
Objective:Thalassemia is blood related disease which arises from the reduced level of hemoglobin in red blood cells (RBC), a protein responsible for carrying oxygen inside the body. Considering its widespread occurrence in developing countries like Pakistan, this study aims to investigate the common molecular anomalies of the beta thalassemia disease in district Charsadda, Khyber Pakhtunkhwa.Methods:This work was done at Abdul Wali Khan University (AWKU) Mardan, Khyber Pakhtunkhwa, Pakistan. The work was performed on the blood samples collected from the patients and their families with beta thalassemia major (n = 13 families) belonged to District Charsadda. The collected blood samples were analyzed for presence of six known mutations with the help of polymerase cha in reaction technique i.e. amplification of refractory mutation system.Results:Our Study reports six known mutations (IVS-1-5, FSC 8/9, CD 41/42, IVS-1-1, CD 15 and FSC-5) accounting for about 90% of total beta thalassemia genes in this country. Among the reported mutations, IVS 1-5 was the most prevalent beta thalassemia gene in patients belonging to District Charsadda.Conclusion:The results and findings of the current study may help in accessing the frequency of these common mutations and in initiating pre-natal diagnosis programme in Pakistan.
Highlights
Thalassemia represents a group of inherited diseases of hemoglobin which has been demonstrated from the United States and Italy in 1925
Six different β-thalassemia mutations have been identified in Pakistan till date
This study reports the molecular analysis of 52 chromosomes using polymerase chain reaction and the presence of common β-thalassemia mutation IVS-1-5 and FSC-8/9
Summary
Thalassemia represents a group of inherited diseases of hemoglobin which has been demonstrated from the United States and Italy in 1925. It was confirmed later on that the disease is very common and can be found in most parts of the world.[1,2,3,4] Among the known disorders, thalassemia is the first to have been studied on molecular level and have given sufficient knowledge about the range of mutation[5,6] that triggers genetic diseases in humans This has increased our understanding about the symptoms and other features of the disease which can be used to prevent its occurrence and find ways to treat it after it has been caused. One way to reduce its occurrence in the developing countries is to improve the socioeconomic conditions of the people as it can cause serious public health problem
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