Muhammad Asad Suliman, Dr. Ishtiaq Hassan and Kalim Ullah
Beta thalassemia is one of the most common genetic diseases in Pakistan. It is a recessive type of disorder and is associated with mutation in beta globin gene. More than 300 genetic mutations are already reported from this gene. These mutations cause changes in beta globin protein. All the patients with mutations show beta-thalassemia phenotype. This study was designed to assess the distribution and genetic mutations of beta thalassemia in HBB gene across the district Karak. The DNA was extracted from the collected samples and gene specific point mutation was assessed using ARMS-PCR. The analysis showed the homozygosity or heterozygosity of the specific mutations (IVSI-5, CD 41-42, FSC 8-9 and CAP +15). Appropriate statistical method was used to differentiate the point mutation which is distributed in the people. Dendrogram analysis revealed variations among the studied cases. A total of three clusters were observed containing all the 46 samples (patients) based on the Euclidian distance (ranged 0-37). C-III was the biggest of all cluster as it was having 17 (36.96%) out of 46 samples while C-I and C-II was having 14 (30.43%) and 15 (32.61%) samples, respectively. Profile plot was also constructed on samples to observe the variation of each marker across all the population. It was revealed that marker IVS1-5 have values 2.3, 1.7 and 1.1 in clusters C-I, C-II and C-III respectively. Primer CD 41-42 showed values of 1.4, 2.8 and 1.2, primer FSC 8-9 had values of 1.6, 1.7 and 1.9, marker CAP 1-5 had values 2.4, 1.5 and 1.2 for C-I, C-II and C-III, respectively. Overall the most prevalent mutation identified in this study was IVSI-5, FSC 8-9, CAP +15 and CD 41-42. It was also noted that most of the patient’s parents were not first cousin, 50% patients parents were second cousins. Moreover, it was observed that not proper diagnostic centers or genetic counseling centers are available at district Karak. Hence, if the government and non-governmental organizations play their role in establishment of proper pre-natal and genetic counseling centers the disease burden of the area can be minimized.
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