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.
