Investigation of mutations in β-thalassaemic patients in the province of Khyber Pakhtunkhwa

Abstract

β- thalassaemia is a group of hereditary hematological disorders which are heterogeneous in nature with a number of reported mutations. These disorders have same clinical symptomatology that is loss of β- chain of haemoglobin leading to its poor or no synthesis which results in an inadequate oxygen supply causing anaemia and hypoxia. Population of KPK region shows favourable signs for β- thalassaemia prevalence. Its socio-economic system and strong cultural norms favour under reporting of patients to healthcare units and also favour consanguineous marriages which increase the chance of β- thalassaemia prevalence. In the current study, KPK population was screened for 16 known mutations in Pakistani population. Samples were taken from Mansehra, Abbottabad and Peshawar followed by characterization by ARMS PCR. IVS-1-5 mutation was found to be the most prevalent in the sample population (53.14%) followed by FSC-8/9 (G+) and Cd 41-42 (-CTTT) which were prevalent in (17.71%) and (14.57%) of the sample population, respectively. The high percentage of β-thalassaemia was seen in Swati family (40.57%) followed by Syed (13.71%) and Tanoli (12%). High trend of consanguineous marriages were also found in the population. Complications of DFO were very common in older patients as compared to younger ones which concluded that with an increase in age risk to complications also increases.