DefinePK

Abstract

Abstract | β-Thalassemia is the most common genetic disorder of the time. In Pakistan, around 1–4 per 1000 infants is diagnosed with the disease making it one of the high-risk countries in the world. This study was aimed to quantify the public’s awareness, attitude, perception and prevention among the population of Azad Jammu and Kashmir. A descriptive cross-sectional was conducted from Mar-Sep 2021. Participants were selected through random sampling and questioned face to face using a predesigned, pretested questionnaire. The first portion of the questionnaire enquired about basic demographic data; the second half evaluated the participant’s knowledge about thalassemia. The third and fourth sections dealt with people’s perceptions and attitudes regarding thalassemia. The Statistical Package for Social Sciences (SPSS) Statistics was used to analyse the data. Approximately 75% of the participants (n = 1677) had heard of thalassemia. Around 48% of the people interviewed were unaware that one might be a thalassemia carrier. Only 5.3% of the participants strongly agreed that necessary tests should be run before and after birth to screen a β-thalassemia minor/carrier baby. Thalassemia carriers should not get married and 6.2% thought that premarital screening for the disease was important. Around 69.47% of the respondents strongly agreed that cousin marriages are not a reason behind β-thalassemia in the family. Despite the highest literacy rate, large number of young population and prosperity in the region, awareness about genetic disorders is not sufficient. Novelty Statement | This manuscript presents the first knowledge assessment study on β-thalassemia in Azad Jammu and Kashmir, Pakistan. Our research contributes to the understanding of β-thalassemia in this region and highlights areas where educational interventions may be necessary. This study fills an important gap in knowledge and provides a foundation for future research on β-thalassemia in Azad Jammu and Kashmir.