<p>Beta-thalassemia major (β-TM) is a genetic disorder, prevalent especially in the Mediterranean region, Southeast Asia, and the Indian subcontinent. With improvements in management over the years, β-TM has transitioned from a fatal childhood disease to a chronic condition. However, in Pakistan, there is still a lack of a comprehensive national policy and strategic plan, which has resulted in a growing number of β-TM patients, placing a substantial burden on individuals and the national healthcare system. This scoping review is aimed to understand obstacles faced by β-TM patients in Pakistan. For this review, 26 unique articles were identified by using the PRISMA flow guidelines. PubMed and Google Scholar were used with the MESH term Beta-Thalassemia Major AND Pakistan, and the duration was set between 2012–2022. Then, the reviewers created a spreadsheet using Microsoft Excel to add in the data from the studies selected. Inductive and deductive approaches were used for thematic analysis. Additionally, we critically analyzed the current landscape of β-TM in Pakistan. The main challenges in β-TM care in Pakistan are suboptimal transfusion services and a poor complication management. Due to the need of chronic blood transfusions, transfusion-transmitted infection (TTI) incidence within this patient population is high. These largely include hepatitis C, hepatitis B, and the Human immunodeficiency virus (HIV). TTIs impact the quality of life of these patients and their overall survival. Furthermore, psychosocial morbidities are also prevalent in β-TM patients, with increased levels of hostility, anxiety, and depressive symptoms, thus emphasizing the critical need for sustained psychological support. Access to quality treatments is constrained, with notable disparities between public and private sector hospitals. Additionally, the financial burden on β-TM patients is considerable, which contributes to economic strain and more hardships on the already suffering families. The review concludes that the absence of a unified national policy exacerbates these challenges, which results in an escalating burden of β-TM nationwide. To address these issues, essential recommendations include the following: the implementation of a standardized protocol for β-TM care, the enhancement of access to quality care, the provision of iron chelation therapy, and safeguarding safe blood transfusion practices. Prevention programs, along with increased public awareness and education about β-TM and carrier screening, are pivotal. Collaborative efforts with international partners and drawing insights from successful strategies in countries with similar β-TM burdens can aid in mitigating the overall impact of β-TM in Pakistan and improving the quality of life of the affected individuals.</p>
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