CONSANGUINEOUS MARRIAGES AND THALASSEMIA MAJOR IN PAKISTAN: A CROSS-SECTIONAL STUDY ON AWARENESS AND PREVALENCE

Аннотация

INTRODUCTION prevalent genetic blood disorder globally by the Thalassemia encompasses a spectrum of World Health Organization (WHO) (4). The burden autosomal recessive disorders characterized by is substantial, with approximately 70,000 infants diminished hemoglobin production due to faulty born with beta Thalassemia major annually synthesis of alpha and beta chains, leading to worldwide, and an estimated 270 million increased destruction of red blood cells (1). individuals carrying hemoglobinopathies (4). In Individuals with alpha thalassemia exhibit addressing these challenges, literature provides a insufficient alpha chain production, resulting in an comprehensive overview of global thalassemia excess of beta globulin chains, while those with epidemiology and discusses recent advancements beta thalassemia lack beta globulin chain synthesis, in prevention and management strategies. It also leading to an excess of alpha chains (2). Globally, explores the impact of consanguineous marriages thalassemia ranks as the second most prevalent on genetic disorders, including thalassemia, hemoglobinopathy following sickle cell disease (3). shedding light on the implications for clinical Thalassemia major has emerged as a significant genetics and public health (5,6). public health concern, being identified as the most https://www.theamericanjournals.com/index.php/tajmspr 50 THE USA JOURNALS THE AMERICAN JOURNAL OF MEDICAL SCIENCES AND PHARMACEUTICAL RESEARCH (ISSN – 2689-1026) VOLUME 06 ISSUE07 The incidence of beta thalassemia major is notably significance of comprehensive care strategies that higher in tropical and sub-tropical regions, cater to both medical and psychosocial particularly in Mediterranean countries, South East requirements (17). Asia, the Middle East, and the Indian Subcontinent, The primary aim of our study was to investigate the with reported higher carrier frequencies in specific correlation between cousin marriages and the regions such as Cyprus, Sardinia, and South East prevalence of beta thalassemia major, while the Asia (7). Notably, nearly 70% of families in the secondary objective was to evaluate parental present study reported having more than one child knowledge of the disease and attitudes toward with beta thalassemia major (8). In Pakistan, prenatal diagnosis, particularly in Sargodha, where thalassemia major stands as one of the most social and caste-based marriages are prevalent. prevalent genetic disorders, with over 5000 new patients added to the affected population annually METHODOLOGY (9). The prevalence is exacerbated by the deeply Study Design ingrained social practice of cousin marriage, which This study adopts a descriptive cross-sectional constitutes approximately 60% of marriages in design. Pakistan and contributes significantly to hereditary disorders (10). Setting Different studies shed light on the knowledge, The research is conducted among patients attitudes, and experiences of individuals diagnosed with thalassemia major, who are undergoing genetic counseling and prenatal attending the thalassemia blood center at Halal-e- diagnosis in Pakistan, highlighting cultural factors Ahmer Hospital in Sargodha. influencing decision-making regarding genetic Duration testing and family planning (11, 12). Data collection spans from March 2022 to October Cousin marriage, defined as marriage between 2022. individuals with an inbreeding coefficient equal to or greater than 0.0156, substantially elevates the Sample Size risk of thalassemia major in offspring (13). Recent A total of 200 patients are included in the study. studies have underscored additional social and The sample size is determined with a p-value of cultural factors, including low economic status, 0.05, resulting in a margin of error of 6.9% lack of awareness, and intra-ethnic marriages, as (alpha=0.069) and a confidence level of 95%. The further contributors to the high frequency of sample size calculation is based on the formula S= thalassemia in the Pakistani population (14,15). Z^2xPxQ/E^2, = (1.96)2x (0.5) x (0.5)/ (0.069)2 This is corroborated by a study which discusses the yielding a value of 200. challenges encountered in managing beta- Exclusion Criterion thalassemia and emphasizes the need for comprehensive care strategies to improve patient Patients with other hemoglobinopathies, such as outcomes (16). sickle cell disease and hereditary spherocytosis, are excluded from the study. Presently, two main treatments for thalassemia major exist: symptomatic management and bone Inclusion Criterion marrow transplantation (1). However, there is no The study includes patients diagnosed with definitive cure, and lifelong blood transfusions thalassemia major, as well as their parents. constitute the primary form of treatment, imposing significant financial and emotional burdens on Data Collection affected families and the healthcare system (1). The Prior to the main data collection, a pilot study is exploration of thalassem