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HEMOPHILIA

CHAPTER ONE

INTRODUCTION

1.1 Background of the Study

Hemophilia is a rare, inherited genetic disorder that affects the blood's ability to clot properly. This condition occurs due to a deficiency in one of the clotting factors, essential proteins that help to stop bleeding when blood vessels are injured. Hemophilia primarily affects males because the genes responsible for clotting factor deficiencies are located on the X chromosome. Therefore, males who inherit the defective gene will manifest the disorder, while females can be carriers of the disease. Hemophilia is classified into two major types, hemophilia A and hemophilia B, depending on which clotting factor is deficient. Hemophilia A, which results from a deficiency of clotting factor VIII, accounts for about 80% of all hemophilia cases, while hemophilia B, also known as Christmas disease, is caused by a deficiency in factor IX (Srivastava et al., 2020).

The genetic basis of hemophilia has been widely studied, and it is well established that the disorder is inherited in an X-linked recessive manner. Because males have only one X chromosome, the presence of a defective gene on this chromosome leads to the development of hemophilia. In contrast, females have two X chromosomes, and the presence of one normal gene is often enough to prevent the manifestation of the disease. However, female carriers may still experience symptoms of mild hemophilia, such as prolonged bleeding after surgery or trauma (World Federation of Hemophilia, 2019).

Hemophilia has been recognized throughout history, with the earliest known descriptions dating back to ancient times. The Talmud, a Jewish religious text, contains references to a bleeding disorder that could be passed from mother to son, an early recognition of the hereditary nature of hemophilia (Zimmerman et al., 2019). Modern understanding of the disease began to take shape in the 19th and 20th centuries with advancements in medical science. In the 1950s, scientists identified the specific clotting factors involved in hemophilia, leading to the development of diagnostic tests and treatments, such as factor replacement therapy (Franchini & Mannucci, 2020).

Despite these advancements, hemophilia continues to pose significant challenges for affected individuals. Before the development of modern treatments, people with severe hemophilia often experienced frequent, spontaneous bleeding episodes, which could lead to severe joint damage, chronic pain, and disability (Mannucci & Franchini, 2021). In some cases, internal bleeding into the brain or other vital organs could be life-threatening. However, with the advent of clotting factor concentrates in the 1960s, hemophilia patients gained

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