Abstract

EXPLORING THE CAUSE AND CURE OF HAEMOPHILIA; AN OVERVIEW

Suraj Vaish*, Hemank KC and Sanjeev Gurung

ABSTRACT

Introduction: Haemophilia manifests primarily as bleeding into muscles and joints due to decreased or missing factor VIII or IX activity. Its spectrum ranges from minor bleeding tendencies to life-threatening hemorrhages. Carrier females inherit abnormal factor genes, resulting in a 50% normal clotting factor level. Historically known as 'The Royal Disease,' haemophilia affects 1 in 5,000 to 1 in 10,000 live male births, with type A being more prevalent. Advances in treatment have increased life expectancy, but comorbidities like cardiovascular issues persist. Haemophilia is caused by a mutation in genes on the X chromosome, leading to varied global diagnostic and treatment access. Literature review: Haemophilia's genetic inheritance, clinical presentations, and impact on morbidity and
mortality are well-documented. High-income countries achieve near-complete patient identification, while low-income nations face significant diagnostic and treatment disparities. Treatment advancements, including plasma-derived concentrates and recombinant coagulation factors, have improved patient outcomes. The World Blood Donation Registry plays a crucial role in standardizing clinical data, enhancing advocacy, and advancing research. Methods: The overview involved a comprehensive review of existing literature on haemophilia, including studies on epidemiology, genetics, clinical manifestations, treatment modalities, and pain management strategies. Data were collected from reputable sources such as peer-reviewed journals, governmental health agencies, and international health organizations. Results: Findings highlighted the complex genetic inheritance of haemophilia, its clinical manifestations, treatment options, and disparities in diagnosis and treatment access. Advances in gene therapy using viral vectors show promise but face challenges in wide-scale implementation. Discussion: The discussion explores the implications of the overview findings for future research, clinical practice, and public health policy. Challenges in gene therapy accessibility and the importance of addressing diagnostic and treatment disparities are emphasized. Multidisciplinary approaches to pain management are crucial for enhancing the quality of life for haemophilia patients. Conclusion: Haemophilia is a significant health concern with genetic underpinnings, diverse clinical presentations, and global disparities in diagnosis and treatment access. While advancements in treatment modalities offer hope, challenges remain in achieving equitable healthcare delivery for all patients. Further research and advocacy efforts are essential to improve outcomes and quality of life for individuals with haemophilia.

Keywords: Haemophilia, Factor VIII, Factor IX, Therapies, Case Study, Pain management.